ClinVar for MedGen (Select 1626645) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 410

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3763904	NM_004208.4(AIFM1):c.313A>G (p.Thr105Ala)	AIFM1, RAB33A (T101A +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign
Select item 3763833	NM_004208.4(AIFM1):c.1573+18C>G	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GBenign
Select item 3763666	NM_004208.4(AIFM1):c.384G>A (p.Ala128=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GBenign
Select item 3763329	NM_004208.4(AIFM1):c.53C>T (p.Pro18Leu)	RAB33A, AIFM1 +1 more (P18L)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 3762833	NM_004208.4(AIFM1):c.66C>T (p.Thr22=)	AIFM1, LOC130068679 +1 more	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 3762517	NM_004208.4(AIFM1):c.1573+8A>G	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 3762254	NM_004208.4(AIFM1):c.1582A>G (p.Ile528Val)	AIFM1, RAB33A (I189V +2 more)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 3761808	NM_004208.4(AIFM1):c.193G>A (p.Asp65Asn)	AIFM1, RAB33A (D65N)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 3761633	NM_004208.4(AIFM1):c.25G>T (p.Ala9Ser)	AIFM1, LOC130068679 +1 more (A9S)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 3760895	NM_004208.4(AIFM1):c.128A>G (p.His43Arg)	AIFM1, RAB33A (H43R)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 3760594	NM_004208.4(AIFM1):c.697-11G>T	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 3760583	NM_004208.4(AIFM1):c.1533A>G (p.Ala511=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 3759672	NM_004208.4(AIFM1):c.1288C>T (p.Arg430Cys)	AIFM1, RAB33A (R426C +2 more)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 3759581	NM_004208.4(AIFM1):c.1306-12T>A	RAB33A, AIFM1	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 3759110	NM_004208.4(AIFM1):c.1374T>C (p.Ala458=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 3758884	NM_004208.4(AIFM1):c.87G>A (p.Arg29=)	AIFM1, LOC130068679 +1 more	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 3758679	NM_004208.4(AIFM1):c.249+17C>T	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 3758423	NM_004208.4(AIFM1):c.1253T>G (p.Phe418Cys)	RAB33A, AIFM1 (F414C +2 more)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 3758391	NM_004208.4(AIFM1):c.1390T>C (p.Leu464=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 3758379	NM_004208.4(AIFM1):c.475-15T>G	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 3757540	NM_004208.4(AIFM1):c.316C>A (p.Pro106Thr)	AIFM1, RAB33A (P102T +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 3757509	NM_004208.4(AIFM1):c.1650T>C (p.Val550=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 3756730	NM_004208.4(AIFM1):c.697-13G>A	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 3756453	NM_004208.4(AIFM1):c.1507C>A (p.Pro503Thr)	AIFM1, RAB33A (P164T +2 more)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 3756282	NM_004208.4(AIFM1):c.475-17G>C	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 3756246	NM_004208.4(AIFM1):c.367G>A (p.Val123Ile)	AIFM1, RAB33A (V119I +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 3753248	NM_004208.4(AIFM1):c.777A>C (p.Ala259=)	RAB33A, AIFM1	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 3751931	NM_004208.4(AIFM1):c.1354G>A (p.Val452Ile)	AIFM1, RAB33A (V113I +2 more)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 3751912	NM_004208.4(AIFM1):c.606-6A>G	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 3750824	NM_004208.4(AIFM1):c.1234C>T (p.Leu412=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 3750792	NM_004208.4(AIFM1):c.245C>T (p.Ala82Val)	AIFM1, RAB33A (A82V)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 3750547	NM_004208.4(AIFM1):c.620C>T (p.Pro207Leu)	AIFM1, RAB33A (P203L +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 3750134	NM_004208.4(AIFM1):c.697-7G>A	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 3749792	NM_004208.4(AIFM1):c.1722G>T (p.Val574=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 3749461	NM_004208.4(AIFM1):c.327A>G (p.Lys109=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 3749049	NM_004208.4(AIFM1):c.350-12T>C	RAB33A, AIFM1	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 3602164	NM_004208.4(AIFM1):c.548A>G (p.Asp183Gly)	AIFM1, RAB33A (D179G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 3245679	NC_000023.10:g.(?_129290415)_(129290597_?)dup	AIFM1	Duplication	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2954149	NM_004208.4(AIFM1):c.1076-10G>A	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2951460	NM_004208.4(AIFM1):c.77G>C (p.Arg26Pro)	AIFM1, LOC130068679 +1 more (R26P)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GUncertain significance
Select item 2950927	NM_004208.4(AIFM1):c.250-6C>A	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign
Select item 2950317	NM_004208.4(AIFM1):c.1636A>C (p.Ser546Arg)	AIFM1, RAB33A (S207R +2 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GUncertain significance
Select item 2949781	NM_004208.4(AIFM1):c.1076-14G>C	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign
Select item 2948631	NM_004208.4(AIFM1):c.1076-6T>C	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2948133	NM_004208.4(AIFM1):c.1155C>T (p.Asp385=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2948033	NM_004208.4(AIFM1):c.1076-7T>C	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2947856	NM_004208.4(AIFM1):c.51G>T (p.Val17=)	AIFM1, LOC130068679 +1 more	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2947625	NM_004208.4(AIFM1):c.881A>G (p.Glu294Gly)	AIFM1, RAB33A (E290G +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2947352	NM_004208.4(AIFM1):c.350-5T>C	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2947002	NM_004208.4(AIFM1):c.723C>T (p.Asn241=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2946230	NM_004208.4(AIFM1):c.98G>A (p.Arg33Gln)	AIFM1, LOC130068679 +1 more (R33Q)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2946132	NM_004208.4(AIFM1):c.1771-8T>C	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign
Select item 2943270	NM_004208.4(AIFM1):c.318A>G (p.Pro106=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2942879	NM_004208.4(AIFM1):c.756C>T (p.Thr252=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2942676	NM_004208.4(AIFM1):c.1448+12G>A	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2942330	NM_004208.4(AIFM1):c.1337A>G (p.Lys446Arg)	AIFM1, RAB33A (K107R +2 more)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2941935	NM_004208.4(AIFM1):c.700G>C (p.Val234Leu)	AIFM1, RAB33A (V230L +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2941235	NM_004208.4(AIFM1):c.1161G>A (p.Arg387=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign
Select item 2941191	NM_004208.4(AIFM1):c.967+15G>T	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2941138	NM_004208.4(AIFM1):c.1688G>C (p.Gly563Ala)	AIFM1, RAB33A (G224A +2 more)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation deficiency +2 more	GUncertain significance
Select item 2941013	NM_004208.4(AIFM1):c.1373C>G (p.Ala458Gly)	AIFM1, RAB33A (A454G +2 more)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2940562	NM_004208.4(AIFM1):c.397C>T (p.Pro133Ser)	AIFM1, RAB33A (P129S +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2940453	NM_004208.4(AIFM1):c.1164+9G>A	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2939214	NM_004208.4(AIFM1):c.651G>C (p.Leu217=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign
Select item 2938751	NM_004208.4(AIFM1):c.1441A>G (p.Met481Val)	AIFM1, RAB33A (M142V +2 more)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2938748	NM_004208.4(AIFM1):c.819T>A (p.Ala273=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2938337	NM_004208.4(AIFM1):c.537G>A (p.Leu179=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2937443	NM_004208.4(AIFM1):c.986A>G (p.Glu329Gly)	AIFM1, RAB33A (E329G +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Charcot-Marie-Tooth Neuropathy X +2 more	GUncertain significance
Select item 2937368	NM_004208.4(AIFM1):c.31G>C (p.Ala11Pro)	AIFM1, LOC130068679 +1 more (A11P)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GUncertain significance
Select item 2936886	NM_004208.4(AIFM1):c.1573+3A>G	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GUncertain significance
Select item 2936547	NM_004208.4(AIFM1):c.1608C>T (p.Ser536=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2936083	NM_004208.4(AIFM1):c.559G>A (p.Val187Ile)	AIFM1, RAB33A (V187I +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign
Select item 2935678	NM_004208.4(AIFM1):c.606-15C>G	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign
Select item 2935650	NM_004208.4(AIFM1):c.349+13_349+14insTCCCTAC	RAB33A, AIFM1	Insertion (intron variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign
Select item 2935332	NM_004208.4(AIFM1):c.606-17CT[2]	AIFM1, RAB33A	Microsatellite (intron variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign
Select item 2935101	NM_004208.4(AIFM1):c.1553A>G (p.Lys518Arg)	AIFM1, RAB33A (K514R +2 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GUncertain significance
Select item 2934821	NM_004208.4(AIFM1):c.782-11C>T	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GBenign
Select item 2934504	NM_004208.4(AIFM1):c.258G>T (p.Lys86Asn)	AIFM1, RAB33A (K86N +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2934417	NM_004208.4(AIFM1):c.1679A>G (p.Tyr560Cys)	AIFM1, RAB33A (Y560C +2 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GUncertain significance
Select item 2934140	NM_004208.4(AIFM1):c.249+18G>A	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign
Select item 2933356	NM_004208.4(AIFM1):c.1195G>A (p.Gly399Ser)	AIFM1, RAB33A (G60S +2 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely pathogenic
Select item 2933243	NM_004208.4(AIFM1):c.1559C>T (p.Ala520Val)	AIFM1, RAB33A (A516V +2 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign
Select item 2932529	NM_004208.4(AIFM1):c.966G>A (p.Lys322=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2932457	NM_004208.4(AIFM1):c.1589C>T (p.Ser530Leu)	AIFM1, RAB33A (S191L +2 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GUncertain significance
Select item 2931833	NM_004208.4(AIFM1):c.562A>G (p.Thr188Ala)	AIFM1, RAB33A (T188A +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GUncertain significance
Select item 2931826	NM_004208.4(AIFM1):c.1356A>G (p.Val452=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign
Select item 2931269	NM_004208.4(AIFM1):c.696+20_696+22del	AIFM1, RAB33A	Microsatellite (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2931216	NM_004208.4(AIFM1):c.349+6T>C	RAB33A, AIFM1	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2929649	NM_004208.4(AIFM1):c.1005C>T (p.Pro335=)	AIFM1, RAB33A	Single nucleotide variant (5 prime UTR variant +3 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2929565	NM_004208.4(AIFM1):c.738T>C (p.Asn246=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2929452	NM_004208.4(AIFM1):c.1771-14T>A	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2928438	NM_004208.4(AIFM1):c.1112C>A (p.Ser371Tyr)	AIFM1, RAB33A (S371Y +2 more)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2928089	NM_004208.4(AIFM1):c.1740C>T (p.Asn580=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2928059	NM_004208.4(AIFM1):c.649C>T (p.Leu217=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GBenign
Select item 2925996	NM_004208.4(AIFM1):c.781+19G>A	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2925030	NM_004208.4(AIFM1):c.173G>T (p.Gly58Val)	AIFM1, RAB33A (G58V)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2923976	NM_004208.4(AIFM1):c.846G>A (p.Thr282=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2923785	NM_004208.4(AIFM1):c.1719C>T (p.Val573=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2921945	NM_004208.4(AIFM1):c.967+9T>C	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign
Select item 2921429	NM_004208.4(AIFM1):c.1044C>T (p.Leu348=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign

<< First< Prev

Page of 5