"Ambry Genetics"[submitter] AND "LOC129388446"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 287755	NM_001365951.3(KIF1B):c.-5T>C	KIF1B, LOC129388446	Single nucleotide variant (5 prime UTR variant)	not specified +1 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)	Charcot-Marie-Tooth disease type 2 +2 more	GUncertain significance
Select item 1756609	NM_001365951.3(KIF1B):c.6G>A (p.Ser2=)	KIF1B, LOC129388446	Single nucleotide variant (synonymous variant)	not specified +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)	LOC129388446, KIF1B (K7M)	Single nucleotide variant (missense variant)	not specified	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 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 3226545	NM_001365951.3(KIF1B):c.53G>A (p.Arg18Gln)	KIF1B, LOC129388446 (R18Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288400	NM_001365951.3(KIF1B):c.59C>A (p.Thr20Asn)	KIF1B, LOC129388446 (T20N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 947677	NM_001365951.3(KIF1B):c.59C>T (p.Thr20Ile)	LOC129388446, KIF1B (T20I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 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 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)	not specified	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)	Charcot-Marie-Tooth disease type 2 +3 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=)	KIF1B, LOC129388446	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
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)	KIF1B, LOC129388446 (Q29E)	Single nucleotide variant (missense variant)	KIF1B-related disorder +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 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 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

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Items: 42