ClinVar for MedGen (Select 395629) - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1366739	NM_001097577.3(ANG):c.433C>T (p.Arg145Cys)	ANG, EGILA +1 more (R145C)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 9 +1 more	GUncertain significance
Select item 883659	NM_001097577.3(ANG):c.368G>A (p.Gly123Glu)	ANG, EGILA +1 more (G123E)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 9	GUncertain significance
Select item 883658	NM_001097577.3(ANG):c.224G>A (p.Arg75His)	ANG, EGILA +1 more (R75H)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 9 +1 more	GUncertain significance
Select item 882867	NM_001097577.3(ANG):c.62C>T (p.Pro21Leu)	ANG, EGILA +1 more (P21L)	Single nucleotide variant (non-coding transcript variant +3 more)	Amyotrophic lateral sclerosis type 9 +1 more	GUncertain significance
Select item 882866	NM_001097577.3(ANG):c.62C>A (p.Pro21Gln)	ANG, EGILA +1 more (P21Q)	Single nucleotide variant (non-coding transcript variant +3 more)	Amyotrophic lateral sclerosis type 9 +1 more	GBenign/Likely benign
Select item 882865	NM_001097577.3(ANG):c.38T>C (p.Val13Ala)	ANG, EGILA +1 more (V13A)	Single nucleotide variant (non-coding transcript variant +3 more)	Amyotrophic lateral sclerosis type 9 +1 more	GUncertain significance
Select item 882864	NM_001097577.3(ANG):c.-18-4G>A	ANG, EGILA +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Amyotrophic lateral sclerosis type 9	GUncertain significance
Select item 881717	NM_001145.4(ANG):c.-168A>G	ANG, RNASE4	Single nucleotide variant (5 prime UTR variant)	Amyotrophic lateral sclerosis type 9	GUncertain significance
Select item 881316	NM_001097577.3(ANG):c.*139A>G	ANG, EGILA +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 9	GLikely benign
Select item 881315	NM_001097577.3(ANG):c.*81A>C	ANG, EGILA +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 9	GUncertain significance
Select item 881256	NM_001145.4(ANG):c.-542G>A	ANG	Single nucleotide variant (5 prime UTR variant)	Amyotrophic lateral sclerosis type 9	GUncertain significance
Select item 807060	NM_001097577.3(ANG):c.3G>A (p.Met1Ile)	ANG, EGILA +1 more (M1I)	Single nucleotide variant (non-coding transcript variant +4 more)	Amyotrophic lateral sclerosis type 10 +2 more	GConflicting classifications of pathogenicity
Select item 312778	NM_001097577.3(ANG):c.*10C>T	ANG, EGILA +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 9	GLikely benign
Select item 312777	NM_001097577.3(ANG):c.441G>A (p.Pro147=)	RNASE4, ANG +1 more	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 9	GLikely benign
Select item 312776	NM_001097577.3(ANG):c.365C>T (p.Ala122Val)	ANG, EGILA +1 more (A122V)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 9 +1 more	GConflicting classifications of pathogenicity
Select item 312775	NM_001097577.3(ANG):c.363A>T (p.Thr121=)	ANG, EGILA +1 more	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 312774	NM_001097577.3(ANG):c.250A>G (p.Lys84Glu)	ANG, EGILA +1 more (K84E)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 312773	NM_001097577.3(ANG):c.99C>T (p.Phe33=)	ANG, EGILA +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Amyotrophic lateral sclerosis type 9 +2 more	GBenign/Likely benign
Select item 312772	NM_001145.4(ANG):c.-19+11A>C	RNASE4, ANG +1 more	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 9	GLikely benign
Select item 312771	NM_001145.4(ANG):c.-41T>C	ANG, LOC130055270 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 9 +1 more	GBenign
Select item 312770	NM_001145.4(ANG):c.-115G>C	ANG, RNASE4	Single nucleotide variant (5 prime UTR variant)	Amyotrophic lateral sclerosis type 9	GUncertain significance
Select item 312769	NM_001145.4(ANG):c.-237A>C	ANG	Single nucleotide variant (5 prime UTR variant)	Amyotrophic lateral sclerosis type 9 +1 more	GBenign
Select item 312768	NM_001145.4(ANG):c.-332C>A	ANG, LOC130055269	Single nucleotide variant (5 prime UTR variant)	Amyotrophic lateral sclerosis type 9 +1 more	GBenign
Select item 312767	NM_001145.4(ANG):c.-381C>T	ANG, LOC130055269	Single nucleotide variant (5 prime UTR variant)	Amyotrophic lateral sclerosis type 9	GUncertain significance
Select item 312766	NM_001145.4(ANG):c.-383C>G	ANG, LOC130055269	Single nucleotide variant (5 prime UTR variant)	Amyotrophic lateral sclerosis type 9	GBenign
Select item 312765	NM_001145.4(ANG):c.-401G>T	ANG, LOC130055269	Single nucleotide variant (5 prime UTR variant)	Amyotrophic lateral sclerosis type 9 +1 more	GBenign
Select item 312764	NM_001145.4(ANG):c.-423C>T	ANG	Single nucleotide variant (5 prime UTR variant)	Amyotrophic lateral sclerosis type 9	GBenign
Select item 312763	NM_001145.4(ANG):c.-524G>A	ANG	Single nucleotide variant (5 prime UTR variant)	Amyotrophic lateral sclerosis type 9	GUncertain significance
Select item 312762	NM_001145.4(ANG):c.-530T>C	ANG	Single nucleotide variant (5 prime UTR variant)	Amyotrophic lateral sclerosis type 9 +1 more	GBenign
Select item 312761	NM_001145.4(ANG):c.-534C>T	ANG	Single nucleotide variant (5 prime UTR variant)	Amyotrophic lateral sclerosis type 9 +1 more	GBenign
Select item 312760	NM_001145.4(ANG):c.-579G>C	ANG	Single nucleotide variant (5 prime UTR variant)	Amyotrophic lateral sclerosis type 9 +1 more	GBenign
Select item 312759	NM_001145.4(ANG):c.-594C>A	ANG	Single nucleotide variant (5 prime UTR variant)	Amyotrophic lateral sclerosis type 9	GUncertain significance
Select item 257559	NM_001097577.3(ANG):c.330T>G (p.Gly110=)	ANG, EGILA +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 18082	NM_001097577.3(ANG):c.409G>A (p.Val137Ile)	ANG, EGILA +1 more (V137I)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 9	GPathogenic
Select item 18081	NM_001097577.3(ANG):c.407C>T (p.Pro136Leu)	ANG, EGILA +1 more (P136L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 18080	NM_001097577.3(ANG):c.155G>A (p.Ser52Asn)	ANG, EGILA +1 more (S52N)	Single nucleotide variant (non-coding transcript variant +2 more)	Amyotrophic lateral sclerosis type 9	GLikely pathogenic
Select item 18079	NM_001097577.3(ANG):c.208A>G (p.Ile70Val)	RNASE4, ANG +1 more (I70V)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 9 +2 more	GConflicting classifications of pathogenicity
Select item 18078	NM_001097577.3(ANG):c.191A>T (p.Lys64Ile)	ANG, EGILA +1 more (K64I)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 9	GPathogenic
Select item 18077	NM_001097577.3(ANG):c.189C>G (p.Cys63Trp)	ANG, EGILA +1 more (C63W)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 9	GPathogenic
Select item 18076	NM_001097577.3(ANG):c.164G>A (p.Arg55Lys)	ANG, EGILA +1 more (R55K)	Single nucleotide variant (non-coding transcript variant +2 more)	Amyotrophic lateral sclerosis type 9	GPathogenic
Select item 18075	NM_001097577.3(ANG):c.121A>G (p.Lys41Glu)	ANG, EGILA +1 more (K41E)	Single nucleotide variant (non-coding transcript variant +2 more)	Amyotrophic lateral sclerosis type 9	GPathogenic
Select item 18074	NM_001097577.3(ANG):c.122A>T (p.Lys41Ile)	ANG, EGILA +1 more (K41I)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 18073	NM_001097577.3(ANG):c.107A>T (p.Gln36Leu)	ANG, EGILA +1 more (Q36L)	Single nucleotide variant (non-coding transcript variant +2 more)	Amyotrophic lateral sclerosis type 9	GPathogenic

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Items: 43