23095[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	AADACL3, AADACL4 +500 more	Copy number loss	See cases	GPathogenic
Select item 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	LOC129929435, LOC129929436 +505 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 58051	GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3	AADACL3, AADACL4 +387 more	Copy number gain	See cases	GPathogenic
Select item 59884	GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	AADACL3, AADACL4 +386 more	Copy number loss	See cases	GPathogenic
Select item 146535	GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1	AGTRAP, ANGPTL7 +309 more	Copy number loss	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 144297	GRCh38/hg38 1p36.23-36.21(chr1:9064492-12666744)x1	AADACL4, AGTRAP +280 more	Copy number loss	See cases	GPathogenic
Select item 153432	GRCh38/hg38 1p36.22(chr1:9378480-10317912)x3	CLSTN1, CTNNBIP1 +69 more	Copy number gain	See cases	GUncertain significance
Select item 152293	GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1	AADACL3, AADACL4 +370 more	Copy number loss	See cases	GPathogenic
Select item 1707471	NC_000001.11:g.10115497_16283149dup	LOC110120623, LOC110120648 +361 more	Duplication	not specified	GLikely pathogenic
Select item 1224051	NM_001365951.3(KIF1B):c.-299_-298del	KIF1B, LOC129929363	Deletion (5 prime UTR variant)	not provided	GBenign
Select item 368793	NM_001365951.3(KIF1B):c.-260C>T	KIF1B, LOC129929363	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease type 2 +2 more	GLikely benign
Select item 291457	NM_001365951.3(KIF1B):c.-208G>C	KIF1B, LOC129929363	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 291458	NM_001365951.3(KIF1B):c.-146C>T	KIF1B	Single nucleotide variant (5 prime UTR variant)	Neuroblastoma	GUncertain significance
Select item 291459	NM_001365951.3(KIF1B):c.-136C>T	KIF1B	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 291460	NM_001365951.3(KIF1B):c.-127G>A	KIF1B	Single nucleotide variant (5 prime UTR variant)	Neuroblastoma	GLikely benign
Select item 873555	NM_001365951.3(KIF1B):c.-97G>A	KIF1B	Single nucleotide variant (5 prime UTR variant)	Neuroblastoma	GUncertain significance
Select item 291461	NM_001365951.3(KIF1B):c.-80+1G>T	KIF1B	Single nucleotide variant (splice donor variant)	Neuroblastoma	GBenign
Select item 873556	NM_001365951.3(KIF1B):c.-80+13G>A	KIF1B	Single nucleotide variant (intron variant)	Neuroblastoma	GUncertain significance
Select item 291462	NM_001365951.3(KIF1B):c.-79-4A>G	KIF1B	Single nucleotide variant (intron variant)	Neuroblastoma	GUncertain significance
Select item 874553	NM_001365951.3(KIF1B):c.-68G>A	KIF1B	Single nucleotide variant (5 prime UTR variant)	Neuroblastoma	GUncertain significance
Select item 291463	NM_001365951.3(KIF1B):c.-26TA[7]	KIF1B, LOC129388446	Microsatellite (5 prime UTR variant)	Charcot-Marie-Tooth disease type 2 +2 more	GLikely benign
Select item 1251192	NM_001365951.3(KIF1B):c.-26TA[5]	KIF1B, LOC129388446	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 287755	NM_001365951.3(KIF1B):c.-5T>C	KIF1B, LOC129388446	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1784167	NM_001365951.3(KIF1B):c.-1A>C	KIF1B, LOC129388446	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 1444802	NM_001365951.3(KIF1B):c.5C>T (p.Ser2Leu)	KIF1B, LOC129388446 (S2L)	Single nucleotide variant (missense variant)	KIF1B-related condition +2 more	GUncertain significance
Select item 1756609	NM_001365951.3(KIF1B):c.6G>A (p.Ser2=)	KIF1B, LOC129388446	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 1765427	NM_001365951.3(KIF1B):c.8G>T (p.Gly3Val)	KIF1B, LOC129388446 (G3V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1782279	NM_001365951.3(KIF1B):c.18G>A (p.Val6=)	KIF1B, LOC129388446	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1284432	NM_001365951.3(KIF1B):c.20A>T (p.Lys7Met)	KIF1B, LOC129388446 (K7M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2738427	NM_001365951.3(KIF1B):c.23T>C (p.Val8Ala)	KIF1B, LOC129388446 (V8A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3226444	NM_001365951.3(KIF1B):c.31C>A (p.Arg11=)	KIF1B, LOC129388446	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1732055	NM_001365951.3(KIF1B):c.34G>T (p.Val12Leu)	KIF1B, LOC129388446 (V12L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1734057	NM_001365951.3(KIF1B):c.36A>G (p.Val12=)	KIF1B, LOC129388446	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2820553	NM_001365951.3(KIF1B):c.39G>A (p.Arg13=)	KIF1B, LOC129388446	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2448750	NM_001365951.3(KIF1B):c.42C>T (p.Pro14=)	KIF1B, LOC129388446	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3226514	NM_001365951.3(KIF1B):c.46A>T (p.Asn16Tyr)	KIF1B, LOC129388446 (N16Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1041519	NM_001365951.3(KIF1B):c.47A>G (p.Asn16Ser)	KIF1B, LOC129388446 (N16S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1743976	NM_001365951.3(KIF1B):c.48T>C (p.Asn16=)	KIF1B, LOC129388446	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2850039	NM_001365951.3(KIF1B):c.49T>C (p.Ser17Pro)	KIF1B, LOC129388446 (S17P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3226545	NM_001365951.3(KIF1B):c.53G>A (p.Arg18Gln)	KIF1B, LOC129388446 (R18Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 947677	NM_001365951.3(KIF1B):c.59C>T (p.Thr20Ile)	KIF1B, LOC129388446 (T20I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 2563626	NM_001365951.3(KIF1B):c.60C>A (p.Thr20=)	KIF1B, LOC129388446	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 701591	NM_001365951.3(KIF1B):c.60C>G (p.Thr20=)	KIF1B, LOC129388446	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 1054619	NM_001365951.3(KIF1B):c.61A>G (p.Ser21Gly)	KIF1B, LOC129388446 (S21G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 1752719	NM_001365951.3(KIF1B):c.62G>A (p.Ser21Asn)	KIF1B, LOC129388446 (S21N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1334949	NM_001365951.3(KIF1B):c.62G>T (p.Ser21Ile)	KIF1B, LOC129388446 (S21I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1753300	NM_001365951.3(KIF1B):c.63C>T (p.Ser21=)	KIF1B, LOC129388446	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 694925	NM_001365951.3(KIF1B):c.65A>G (p.Lys22Arg)	KIF1B, LOC129388446 (K22R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +2 more	GUncertain significance
Select item 2448744	NM_001365951.3(KIF1B):c.69A>G (p.Glu23=)	KIF1B, LOC129388446	Single nucleotide variant (synonymous variant)	KIF1B-related condition +1 more	GLikely benign
Select item 1757647	NM_001365951.3(KIF1B):c.71C>G (p.Ser24Cys)	KIF1B, LOC129388446 (S24C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1758187	NM_001365951.3(KIF1B):c.72C>T (p.Ser24=)	KIF1B, LOC129388446	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3226559	NM_001365951.3(KIF1B):c.74A>G (p.Lys25Arg)	KIF1B, LOC129388446 (K25R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 696714	NM_001365951.3(KIF1B):c.78C>T (p.Cys26=)	KIF1B, LOC129388446	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 2561707	NM_001365951.3(KIF1B):c.79A>G (p.Ile27Val)	KIF1B, LOC129388446 (I27V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1644692	NM_001365951.3(KIF1B):c.81C>T (p.Ile27=)	LOC129388446, KIF1B	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 852508	NM_001365951.3(KIF1B):c.82A>C (p.Ile28Leu)	KIF1B, LOC129388446 (I28L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1763655	NM_001365951.3(KIF1B):c.84T>G (p.Ile28Met)	KIF1B, LOC129388446 (I28M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 216686	NM_001365951.3(KIF1B):c.85C>G (p.Gln29Glu)	LOC129388446, KIF1B (Q29E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +3 more	GConflicting classifications of pathogenicity
Select item 1764353	NM_001365951.3(KIF1B):c.86A>G (p.Gln29Arg)	KIF1B, LOC129388446 (Q29R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1764727	NM_001365951.3(KIF1B):c.87G>T (p.Gln29His)	KIF1B, LOC129388446 (Q29H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1376585	NM_001365951.3(KIF1B):c.87G>C (p.Gln29His)	KIF1B, LOC129388446 (Q29H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1765034	NM_001365951.3(KIF1B):c.88A>T (p.Met30Leu)	KIF1B, LOC129388446 (M30L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1766158	NM_001365951.3(KIF1B):c.91C>G (p.Gln31Glu)	KIF1B, LOC129388446 (Q31E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1629604	NM_001365951.3(KIF1B):c.93A>G (p.Gln31=)	KIF1B, LOC129388446	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2141576	NM_001365951.3(KIF1B):c.98A>G (p.Asn33Ser)	KIF1B, LOC129388446 (N33S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1327573	NM_001365951.3(KIF1B):c.101C>T (p.Ser34Leu)	KIF1B, LOC129388446 (S34L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3226335	NM_001365951.3(KIF1B):c.102G>C (p.Ser34=)	KIF1B, LOC129388446	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1770778	NM_001365951.3(KIF1B):c.102G>A (p.Ser34=)	KIF1B, LOC129388446	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2448796	NM_001365951.3(KIF1B):c.103A>G (p.Thr35Ala)	KIF1B, LOC129388446 (T35A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2448129	NM_001365951.3(KIF1B):c.105C>T (p.Thr35=)	KIF1B, LOC129388446	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1130095	NM_001365951.3(KIF1B):c.106+10T>A	KIF1B, LOC129388446	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 2730300	NM_001365951.3(KIF1B):c.106+19C>T	KIF1B, LOC129388446	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1279657	NM_001365951.3(KIF1B):c.106+196C>G	KIF1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 148364	GRCh38/hg38 1p36.22(chr1:10245412-10637093)x1	CENPS, CENPS-CORT +30 more	Copy number loss	See cases	GLikely pathogenic
Select item 1249355	NM_001365951.3(KIF1B):c.107-280_107-279insG	KIF1B	Insertion (intron variant)	not provided	GBenign
Select item 2118651	NM_001365951.3(KIF1B):c.107-19A>C	KIF1B	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2156255	NM_001365951.3(KIF1B):c.107-16C>T	KIF1B	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2812569	NM_001365951.3(KIF1B):c.107-15A>G	KIF1B	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 916757	NM_001365951.3(KIF1B):c.107-13T>C	KIF1B	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease	GLikely benign
Select item 916749	NM_001365951.3(KIF1B):c.107-11T>G	KIF1B	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease	GLikely benign
Select item 291464	NM_001365951.3(KIF1B):c.107-8T>A	KIF1B	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +2 more	GConflicting classifications of pathogenicity
Select item 2724984	NM_001365951.3(KIF1B):c.107-4C>T	KIF1B	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1784350	NM_001365951.3(KIF1B):c.107-4C>G	KIF1B	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2145807	NM_001365951.3(KIF1B):c.107G>A (p.Ser36Asn)	KIF1B (S36N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1414650	NM_001365951.3(KIF1B):c.109A>G (p.Ile37Val)	KIF1B (I37V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 1152749	NM_001365951.3(KIF1B):c.117C>T (p.Asn39=)	KIF1B	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 3226342	NM_001365951.3(KIF1B):c.119C>G (p.Pro40Arg)	KIF1B (P40R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1769060	NM_001365951.3(KIF1B):c.128C>T (p.Pro43Leu)	KIF1B (P43L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2448778	NM_001365951.3(KIF1B):c.131A>T (p.Lys44Met)	KIF1B (K44M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2448722	NM_001365951.3(KIF1B):c.132G>A (p.Lys44=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2008810	NM_001365951.3(KIF1B):c.135A>C (p.Glu45Asp)	KIF1B (E45D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 476777	NM_001365951.3(KIF1B):c.137C>T (p.Ala46Val)	KIF1B (A46V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 1771526	NM_001365951.3(KIF1B):c.138T>G (p.Ala46=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign

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