ClinVar for PubMed (Select 20301702) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064975	NM_000193.4(SHH):c.833_836dup (p.Asp279fs)	SHH (D279fs)	Duplication (frameshift variant +1 more)	Holoprosencephaly 3	GLikely pathogenic
Select item 3064502	NM_007129.5(ZIC2):c.1204_1214del (p.Tyr402fs)	ZIC2 (Y402fs)	Deletion (frameshift variant)	Holoprosencephaly 5	GLikely benign
Select item 3062107	NM_001377229.1(DISP1):c.1916C>T (p.Thr639Ile)	DISP1 (T32I +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 3062092	NM_015698.6(GPKOW):c.1279G>C (p.Gly427Arg)	GPKOW (G427R)	Single nucleotide variant (missense variant)	Holoprosencephaly-hypokinesia-congenital contractures syndrome	GUncertain significance
Select item 3062081	NM_000193.4(SHH):c.812T>C (p.Leu271Pro)	SHH (L271P)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GLikely pathogenic
Select item 3024102	NM_003244.4(TGIF1):c.16+1805del	TGIF1	Deletion (intron variant +1 more)	Holoprosencephaly 4	GLikely pathogenic
Select item 3021110	NM_000193.4(SHH):c.1322A>G (p.Gln441Arg)	SHH (Q441R)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GUncertain significance
Select item 3020320	NM_007129.5(ZIC2):c.399C>T (p.Gly133=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 3019778	NM_003923.3(FOXH1):c.214_217del (p.Glu72fs)	FOXH1 (E72fs)	Deletion (frameshift variant)	Holoprosencephaly sequence	GUncertain significance
Select item 3019576	NM_007129.5(ZIC2):c.1432G>A (p.Gly478Arg)	ZIC2 (G478R)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 3018998	NM_007129.5(ZIC2):c.660C>T (p.Asn220=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 3018551	NM_007129.5(ZIC2):c.1573T>A (p.Ser525Thr)	ZIC2 (S525T)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 3017760	NM_005413.4(SIX3):c.342G>T (p.Ser114=)	SIX3	Single nucleotide variant (synonymous variant)	Holoprosencephaly 2	GLikely benign
Select item 3013771	NM_007129.5(ZIC2):c.95CCG[4] (p.Ala33_Glu34insAlaAla)	ZIC2	Microsatellite (inframe_insertion)	Holoprosencephaly 5	GUncertain significance
Select item 3013415	NM_003923.3(FOXH1):c.825G>A (p.Gly275=)	FOXH1	Single nucleotide variant (synonymous variant)	Holoprosencephaly sequence	GLikely benign
Select item 3011936	NM_000193.4(SHH):c.1365G>A (p.Leu455=)	SHH	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 3	GLikely benign
Select item 3008317	NM_007129.5(ZIC2):c.363C>A (p.Phe121Leu)	ZIC2 (F121L)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 3006954	NM_007129.5(ZIC2):c.112C>G (p.Arg38Gly)	ZIC2 (R38G)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 3001572	NM_003923.3(FOXH1):c.1050C>T (p.Asp350=)	FOXH1	Single nucleotide variant (synonymous variant)	Holoprosencephaly sequence	GLikely benign
Select item 2995801	NM_007129.5(ZIC2):c.1257G>T (p.Pro419=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 2990499	NM_007129.5(ZIC2):c.1599_*4dup (p.Ter533=)	ZIC2	Duplication (no sequence alteration)	Holoprosencephaly 5	GUncertain significance
Select item 2990298	NM_005413.4(SIX3):c.209C>G (p.Ser70Cys)	SIX3 (S70C)	Single nucleotide variant (missense variant)	Holoprosencephaly 2	GUncertain significance
Select item 2987724	NM_007129.5(ZIC2):c.1519_1539del (p.Gly507_Gly513del)	ZIC2	Deletion (inframe_deletion)	Holoprosencephaly 5	GUncertain significance
Select item 2986600	NM_007129.5(ZIC2):c.1490G>C (p.Gly497Ala)	ZIC2 (G497A)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 2983818	NM_005413.4(SIX3):c.933G>A (p.Thr311=)	SIX3	Single nucleotide variant (synonymous variant)	Holoprosencephaly 2	GLikely benign
Select item 2980169	NM_007129.5(ZIC2):c.1335C>G (p.Ala445=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 2979030	NM_007129.5(ZIC2):c.472C>T (p.Leu158Phe)	ZIC2 (L158F)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 2977847	NM_005413.4(SIX3):c.840G>A (p.Met280Ile)	SIX3 (M280I)	Single nucleotide variant (missense variant)	Holoprosencephaly 2	GUncertain significance
Select item 2976609	NM_005413.4(SIX3):c.162G>A (p.Ala54=)	SIX3	Single nucleotide variant (synonymous variant)	Holoprosencephaly 2	GLikely benign
Select item 2967886	NM_000193.4(SHH):c.23T>C (p.Leu8Pro)	SHH (L8P)	Single nucleotide variant (missense variant)	Holoprosencephaly 3	GUncertain significance
Select item 2966939	NM_003923.3(FOXH1):c.567C>A (p.Ser189Arg)	FOXH1 (S189R)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 2957601	NM_007129.5(ZIC2):c.506A>T (p.His169Leu)	ZIC2 (H169L)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 2954192	NM_001374353.1(GLI2):c.3766A>G (p.Met1256Val)	GLI2 (M1131V +2 more)	Single nucleotide variant (missense variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GUncertain significance
Select item 2954017	NM_001374353.1(GLI2):c.2949C>T (p.Pro983=)	GLI2	Single nucleotide variant (synonymous variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GLikely benign
Select item 2953915	NM_001374353.1(GLI2):c.2748C>T (p.Arg916=)	GLI2	Single nucleotide variant (synonymous variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GLikely benign
Select item 2953360	NM_001374353.1(GLI2):c.2631G>C (p.Ala877=)	GLI2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 9 +1 more	GLikely benign
Select item 2953244	NM_001374353.1(GLI2):c.4528G>C (p.Gly1510Arg)	GLI2 (G1510R +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +1 more	GUncertain significance
Select item 2953161	NM_001374353.1(GLI2):c.2245T>C (p.Ser749Pro)	GLI2 (S624P +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +1 more	GUncertain significance
Select item 2952573	NM_001374353.1(GLI2):c.195C>G (p.Asp65Glu)	GLI2 (D65E)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 9 +1 more	GUncertain significance
Select item 2952059	NM_001374353.1(GLI2):c.4269G>A (p.Pro1423=)	GLI2	Single nucleotide variant (synonymous variant)	GLI2-related condition +2 more	GLikely benign
Select item 2951866	NM_001374353.1(GLI2):c.3409G>T (p.Val1137Leu)	GLI2 (V1012L +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +1 more	GUncertain significance
Select item 2951021	NM_001374353.1(GLI2):c.2651del (p.Pro884fs)	GLI2 (P759fs +2 more)	Deletion (frameshift variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GPathogenic
Select item 2950296	NM_001374353.1(GLI2):c.109G>A (p.Val37Met)	GLI2 (V37M)	Single nucleotide variant (missense variant +1 more)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GUncertain significance
Select item 2949367	NM_001374353.1(GLI2):c.2715G>T (p.Ala905=)	GLI2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 9 +1 more	GLikely benign
Select item 2948289	NM_001374353.1(GLI2):c.3361A>G (p.Asn1121Asp)	GLI2 (N996D +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +1 more	GUncertain significance
Select item 2948284	NM_001374353.1(GLI2):c.3612C>T (p.Tyr1204=)	GLI2	Single nucleotide variant (synonymous variant)	GLI2-related condition +2 more	GLikely benign
Select item 2948036	NM_001374353.1(GLI2):c.2589C>A (p.Asn863Lys)	GLI2 (N863K +2 more)	Single nucleotide variant (missense variant)	GLI2-related condition +2 more	GLikely benign
Select item 2947669	NM_001374353.1(GLI2):c.1833C>T (p.Thr611=)	GLI2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 9 +1 more	GLikely benign
Select item 2947133	NM_001374353.1(GLI2):c.149-877_238del	GLI2	Deletion (intron variant +1 more)	Holoprosencephaly 9 +1 more	GLikely pathogenic
Select item 2946633	NM_001374353.1(GLI2):c.148+20C>T	GLI2	Single nucleotide variant (intron variant)	Holoprosencephaly 9 +1 more	GLikely benign
Select item 2946597	NM_001374353.1(GLI2):c.3887_3888inv (p.Pro1296Leu)	GLI2 (P1296L +2 more)	Inversion (missense variant)	Holoprosencephaly 9 +1 more	GUncertain significance
Select item 2945777	NM_001374353.1(GLI2):c.1805G>A (p.Gly602Asp)	GLI2 (G477D +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +1 more	GUncertain significance
Select item 2945119	NM_001374353.1(GLI2):c.1468-13C>A	GLI2	Single nucleotide variant (intron variant)	Holoprosencephaly 9 +1 more	GUncertain significance
Select item 2944311	NM_001374353.1(GLI2):c.539T>G (p.Met180Arg)	GLI2 (M55R +1 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +1 more	GUncertain significance
Select item 2942367	NM_001374353.1(GLI2):c.1658G>T (p.Gly553Val)	GLI2 (G553V +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +1 more	GUncertain significance
Select item 2942127	NM_001374353.1(GLI2):c.258C>T (p.Pro86=)	GLI2	Single nucleotide variant (synonymous variant +1 more)	GLI2-related condition +2 more	GLikely benign
Select item 2941923	NM_001374353.1(GLI2):c.1263C>G (p.Asn421Lys)	GLI2 (N296K +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +1 more	GUncertain significance
Select item 2941907	NM_001374353.1(GLI2):c.3084C>T (p.Asp1028=)	GLI2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 9 +1 more	GLikely benign
Select item 2940993	NM_001374353.1(GLI2):c.3504C>T (p.Gly1168=)	GLI2	Single nucleotide variant (synonymous variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GLikely benign
Select item 2940862	NM_001374353.1(GLI2):c.4620C>T (p.Pro1540=)	GLI2	Single nucleotide variant (synonymous variant)	GLI2-related condition +2 more	GLikely benign
Select item 2940336	NM_001374353.1(GLI2):c.3501G>A (p.Pro1167=)	GLI2	Single nucleotide variant (synonymous variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GLikely benign
Select item 2940027	NM_001374353.1(GLI2):c.4292A>G (p.Tyr1431Cys)	GLI2 (Y1306C +2 more)	Single nucleotide variant (missense variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GUncertain significance
Select item 2938940	NM_001374353.1(GLI2):c.4157T>C (p.Met1386Thr)	GLI2 (M1403T +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +1 more	GUncertain significance
Select item 2938895	NM_001374353.1(GLI2):c.3196G>A (p.Gly1066Arg)	GLI2 (G1066R +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +1 more	GUncertain significance
Select item 2938422	NM_001374353.1(GLI2):c.1318-14T>C	GLI2	Single nucleotide variant (intron variant)	Holoprosencephaly 9 +1 more	GLikely benign
Select item 2938053	NM_001374353.1(GLI2):c.317A>G (p.His106Arg)	GLI2 (H106R)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 9 +1 more	GUncertain significance
Select item 2937560	NM_001374353.1(GLI2):c.294C>G (p.Ile98Met)	GLI2 (I98M)	Single nucleotide variant (missense variant +1 more)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GUncertain significance
Select item 2937467	NM_001374353.1(GLI2):c.3172A>G (p.Ser1058Gly)	GLI2 (S1075G +2 more)	Single nucleotide variant (missense variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GUncertain significance
Select item 2937280	NM_001374353.1(GLI2):c.1471G>A (p.Glu491Lys)	GLI2 (E508K +2 more)	Single nucleotide variant (missense variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GLikely benign
Select item 2936285	NM_001374353.1(GLI2):c.4526C>T (p.Ser1509Leu)	GLI2 (S1384L +2 more)	Single nucleotide variant (missense variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GUncertain significance
Select item 2936183	NM_001374353.1(GLI2):c.1428C>T (p.His476=)	GLI2	Single nucleotide variant (synonymous variant)	GLI2-related condition +2 more	GLikely benign
Select item 2935984	NM_001374353.1(GLI2):c.2561A>G (p.Gln854Arg)	GLI2 (Q854R +2 more)	Single nucleotide variant (missense variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GUncertain significance
Select item 2935732	NM_001374353.1(GLI2):c.4327C>T (p.Leu1443=)	GLI2	Single nucleotide variant (synonymous variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GLikely benign
Select item 2935570	NM_001374353.1(GLI2):c.2196G>A (p.Pro732=)	GLI2	Single nucleotide variant (synonymous variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GLikely benign
Select item 2935540	NM_001374353.1(GLI2):c.2893C>A (p.Pro965Thr)	GLI2 (P965T +2 more)	Single nucleotide variant (missense variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GUncertain significance
Select item 2935528	NM_001374353.1(GLI2):c.2956G>A (p.Asp986Asn)	GLI2 (D986N +2 more)	Single nucleotide variant (missense variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GUncertain significance
Select item 2935519	NM_001374353.1(GLI2):c.2481C>G (p.Gly827=)	GLI2	Single nucleotide variant (synonymous variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GLikely benign
Select item 2935482	NM_001374353.1(GLI2):c.493G>T (p.Gly165Cys)	GLI2 (G40C +1 more)	Single nucleotide variant (missense variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GUncertain significance
Select item 2935302	NM_001374353.1(GLI2):c.2242+18G>T	GLI2	Single nucleotide variant (intron variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GLikely benign
Select item 2934803	NM_001374353.1(GLI2):c.3015C>T (p.Gly1005=)	GLI2	Single nucleotide variant (synonymous variant)	GLI2-related condition +2 more	GLikely benign
Select item 2934452	NM_001374353.1(GLI2):c.3905A>G (p.Gln1302Arg)	GLI2 (Q1177R +2 more)	Single nucleotide variant (missense variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GUncertain significance
Select item 2934354	NM_001374353.1(GLI2):c.2905C>T (p.Arg969Cys)	GLI2 (R986C +2 more)	Single nucleotide variant (missense variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GUncertain significance
Select item 2934269	NM_001374353.1(GLI2):c.1923C>G (p.Pro641=)	GLI2	Single nucleotide variant (synonymous variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GLikely benign
Select item 2933553	NM_001374353.1(GLI2):c.3901G>A (p.Val1301Ile)	GLI2 (V1301I +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +1 more	GUncertain significance
Select item 2933496	NM_001374353.1(GLI2):c.862C>T (p.Pro288Ser)	GLI2 (P288S +1 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +1 more	GUncertain significance
Select item 2933318	NM_001374353.1(GLI2):c.4018G>A (p.Gly1340Ser)	GLI2 (G1357S +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +1 more	GUncertain significance
Select item 2933033	NM_001374353.1(GLI2):c.1560C>T (p.His520=)	GLI2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 9 +1 more	GLikely benign
Select item 2932658	NM_001374353.1(GLI2):c.945C>T (p.Pro315=)	GLI2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 9 +1 more	GLikely benign
Select item 2932634	NM_001374353.1(GLI2):c.1934C>A (p.Ser645Ter)	GLI2 (S645* +2 more)	Single nucleotide variant (nonsense)	Holoprosencephaly 9 +1 more	GPathogenic
Select item 2932563	NM_001374353.1(GLI2):c.804G>A (p.Ala268=)	GLI2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 9 +1 more	GLikely benign
Select item 2932251	NM_001374353.1(GLI2):c.75C>T (p.Phe25=)	GLI2	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 9 +1 more	GLikely benign
Select item 2931060	NM_001374353.1(GLI2):c.3117G>A (p.Pro1039=)	GLI2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 9 +1 more	GLikely benign
Select item 2931007	NM_001374353.1(GLI2):c.3265G>C (p.Gly1089Arg)	GLI2 (G964R +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +1 more	GUncertain significance
Select item 2930394	NM_001374353.1(GLI2):c.1468-13C>T	GLI2	Single nucleotide variant (intron variant)	Holoprosencephaly 9 +1 more	GLikely benign
Select item 2930361	NM_001374353.1(GLI2):c.1819G>A (p.Gly607Ser)	GLI2 (G482S +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +1 more	GUncertain significance
Select item 2930305	NM_001374353.1(GLI2):c.3706C>G (p.Gln1236Glu)	GLI2 (Q1111E +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +1 more	GUncertain significance
Select item 2930047	NM_001374353.1(GLI2):c.1079C>T (p.Ser360Leu)	GLI2 (S235L +1 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +1 more	GUncertain significance
Select item 2929656	NM_001374353.1(GLI2):c.4074C>T (p.Leu1358=)	GLI2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 9 +1 more	GLikely benign
Select item 2929582	NM_001374353.1(GLI2):c.562G>A (p.Ala188Thr)	GLI2 (A188T +1 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +1 more	GUncertain significance
Select item 2929547	NM_001374353.1(GLI2):c.3072G>C (p.Ala1024=)	GLI2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 9 +1 more	GLikely benign

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