C0027672[trait identifier] AND "Ambry Genetics"[submitter] - ClinVar - NCBI

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	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 provided +2 more	GConflicting classifications of pathogenicity
Select item 1784167	NM_001365951.3(KIF1B):c.-1A>C	LOC129388446, KIF1B	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	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)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1782279	NM_001365951.3(KIF1B):c.18G>A (p.Val6=)	KIF1B, LOC129388446	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1284432	NM_001365951.3(KIF1B):c.20A>T (p.Lys7Met)	LOC129388446, KIF1B (K7M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1732055	NM_001365951.3(KIF1B):c.34G>T (p.Val12Leu)	KIF1B, LOC129388446 (V12L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1734057	NM_001365951.3(KIF1B):c.36A>G (p.Val12=)	KIF1B, LOC129388446	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2448750	NM_001365951.3(KIF1B):c.42C>T (p.Pro14=)	KIF1B, LOC129388446	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1041519	NM_001365951.3(KIF1B):c.47A>G (p.Asn16Ser)	KIF1B, LOC129388446 (N16S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1743976	NM_001365951.3(KIF1B):c.48T>C (p.Asn16=)	KIF1B, LOC129388446	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 947677	NM_001365951.3(KIF1B):c.59C>T (p.Thr20Ile)	LOC129388446, KIF1B (T20I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +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)	Hereditary cancer-predisposing syndrome	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)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1753300	NM_001365951.3(KIF1B):c.63C>T (p.Ser21=)	KIF1B, LOC129388446	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 694925	NM_001365951.3(KIF1B):c.65A>G (p.Lys22Arg)	LOC129388446, KIF1B (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)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1758187	NM_001365951.3(KIF1B):c.72C>T (p.Ser24=)	KIF1B, LOC129388446	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 696714	NM_001365951.3(KIF1B):c.78C>T (p.Cys26=)	KIF1B, LOC129388446	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +4 more	GLikely benign
Select item 2561707	NM_001365951.3(KIF1B):c.79A>G (p.Ile27Val)	KIF1B, LOC129388446 (I27V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1644692	NM_001365951.3(KIF1B):c.81C>T (p.Ile27=)	KIF1B, LOC129388446	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1763655	NM_001365951.3(KIF1B):c.84T>G (p.Ile28Met)	KIF1B, LOC129388446 (I28M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	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)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1764727	NM_001365951.3(KIF1B):c.87G>T (p.Gln29His)	KIF1B, LOC129388446 (Q29H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1765034	NM_001365951.3(KIF1B):c.88A>T (p.Met30Leu)	KIF1B, LOC129388446 (M30L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1766158	NM_001365951.3(KIF1B):c.91C>G (p.Gln31Glu)	KIF1B, LOC129388446 (Q31E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1629604	NM_001365951.3(KIF1B):c.93A>G (p.Gln31=)	KIF1B, LOC129388446	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 1327573	NM_001365951.3(KIF1B):c.101C>T (p.Ser34Leu)	KIF1B, LOC129388446 (S34L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1770778	NM_001365951.3(KIF1B):c.102G>A (p.Ser34=)	KIF1B, LOC129388446	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2448796	NM_001365951.3(KIF1B):c.103A>G (p.Thr35Ala)	KIF1B, LOC129388446 (T35A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2448129	NM_001365951.3(KIF1B):c.105C>T (p.Thr35=)	KIF1B, LOC129388446	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1784350	NM_001365951.3(KIF1B):c.107-4C>G	KIF1B	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1769060	NM_001365951.3(KIF1B):c.128C>T (p.Pro43Leu)	KIF1B (P43L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2448778	NM_001365951.3(KIF1B):c.131A>T (p.Lys44Met)	KIF1B (K44M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2448722	NM_001365951.3(KIF1B):c.132G>A (p.Lys44=)	KIF1B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 476777	NM_001365951.3(KIF1B):c.137C>T (p.Ala46Val)	KIF1B (A46V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1771526	NM_001365951.3(KIF1B):c.138T>G (p.Ala46=)	KIF1B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1772904	NM_001365951.3(KIF1B):c.144G>A (p.Lys48=)	KIF1B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 291465	NM_001365951.3(KIF1B):c.146C>A (p.Ser49Tyr)	KIF1B (S49Y)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1773532	NM_001365951.3(KIF1B):c.147C>T (p.Ser49=)	KIF1B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1774161	NM_001365951.3(KIF1B):c.150C>T (p.Phe50=)	KIF1B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2448696	NM_001365951.3(KIF1B):c.151A>G (p.Ser51Gly)	KIF1B (S51G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1774800	NM_001365951.3(KIF1B):c.153C>T (p.Ser51=)	KIF1B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1774795	NM_001365951.3(KIF1B):c.153C>G (p.Ser51Arg)	KIF1B (S51R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 702469	NM_001365951.3(KIF1B):c.156C>T (p.Phe52=)	KIF1B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1775657	NM_001365951.3(KIF1B):c.157G>A (p.Asp53Asn)	KIF1B (D53N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 874554	NM_001365951.3(KIF1B):c.159C>T (p.Asp53=)	KIF1B	Single nucleotide variant (synonymous variant)	Neuroblastoma +1 more	GConflicting classifications of pathogenicity
Select item 1776562	NM_001365951.3(KIF1B):c.161A>G (p.Tyr54Cys)	KIF1B (Y54C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1105809	NM_001365951.3(KIF1B):c.165C>T (p.Ser55=)	KIF1B	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 1777863	NM_001365951.3(KIF1B):c.167A>T (p.Tyr56Phe)	KIF1B (Y56F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 291466	NM_001365951.3(KIF1B):c.168C>T (p.Tyr56=)	KIF1B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 1078276	NM_001365951.3(KIF1B):c.180C>T (p.Thr60=)	KIF1B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 917109	NM_001365951.3(KIF1B):c.183A>G (p.Ser61=)	KIF1B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1780929	NM_001365951.3(KIF1B):c.183+1G>A	KIF1B	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 260541	NM_001365951.3(KIF1B):c.184-6_184-5del	KIF1B	Deletion (intron variant)	Charcot-Marie-Tooth disease +5 more	GBenign/Likely benign
Select item 1781240	NM_001365951.3(KIF1B):c.184-5T>C	KIF1B	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 955876	NM_001365951.3(KIF1B):c.185C>T (p.Pro62Leu)	KIF1B (P62L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 1781641	NM_001365951.3(KIF1B):c.186C>A (p.Pro62=)	KIF1B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 240955	NM_001365951.3(KIF1B):c.186C>T (p.Pro62=)	KIF1B	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +2 more	GBenign/Likely benign
Select item 1023173	NM_001365951.3(KIF1B):c.187G>A (p.Glu63Lys)	KIF1B (E63K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2448746	NM_001365951.3(KIF1B):c.192T>C (p.Asp64=)	KIF1B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2625726	NM_001365951.3(KIF1B):c.196T>C (p.Cys66Arg)	KIF1B (C66R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2625743	NM_001365951.3(KIF1B):c.197G>C (p.Cys66Ser)	KIF1B (C66S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1784870	NM_001365951.3(KIF1B):c.203C>T (p.Ala68Val)	KIF1B (A68V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1785023	NM_001365951.3(KIF1B):c.204A>G (p.Ala68=)	KIF1B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1786042	NM_001365951.3(KIF1B):c.210A>G (p.Gln70=)	KIF1B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 698434	NM_001365951.3(KIF1B):c.213C>T (p.Asn71=)	KIF1B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1010120	NM_001365951.3(KIF1B):c.214C>T (p.Arg72Cys)	KIF1B (R72C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 642188	NM_001365951.3(KIF1B):c.215G>A (p.Arg72His)	KIF1B (R72H)	Single nucleotide variant (missense variant)	Pheochromocytoma +3 more	GConflicting classifications of pathogenicity
Select item 1787559	NM_001365951.3(KIF1B):c.219G>A (p.Val73=)	KIF1B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2448791	NM_001365951.3(KIF1B):c.223A>T (p.Asn75Tyr)	KIF1B (N75Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1439066	NM_001365951.3(KIF1B):c.224A>G (p.Asn75Ser)	KIF1B (N75S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2624428	NM_001365951.3(KIF1B):c.229A>T (p.Ile77Phe)	KIF1B (I77F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1789216	NM_001365951.3(KIF1B):c.229A>G (p.Ile77Val)	KIF1B (I77V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2625733	NM_001365951.3(KIF1B):c.231T>C (p.Ile77=)	KIF1B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2448733	NM_001365951.3(KIF1B):c.231T>G (p.Ile77Met)	KIF1B (I77M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1790668	NM_001365951.3(KIF1B):c.239A>G (p.Glu80Gly)	KIF1B (E80G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1790845	NM_001365951.3(KIF1B):c.240A>G (p.Glu80=)	KIF1B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1451686	NM_001365951.3(KIF1B):c.246C>T (p.Leu82=)	KIF1B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 917343	NM_001365951.3(KIF1B):c.252C>T (p.His84=)	KIF1B	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +2 more	GLikely benign
Select item 2448760	NM_001365951.3(KIF1B):c.253G>A (p.Ala85Thr)	KIF1B (A85T)	Single nucleotide variant (missense variant)	KIF1B-related condition +1 more	GUncertain significance
Select item 1360265	NM_001365951.3(KIF1B):c.253G>T (p.Ala85Ser)	KIF1B (A85S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1793234	NM_001365951.3(KIF1B):c.256T>A (p.Phe86Ile)	KIF1B (F86I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1793923	NM_001365951.3(KIF1B):c.261G>A (p.Glu87=)	KIF1B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 874555	NM_001365951.3(KIF1B):c.264A>G (p.Gly88=)	KIF1B	Single nucleotide variant (synonymous variant)	Neuroblastoma +1 more	GConflicting classifications of pathogenicity
Select item 1796926	NM_001365951.3(KIF1B):c.285C>T (p.Ala95=)	KIF1B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 1143607	NM_001365951.3(KIF1B):c.285C>A (p.Ala95=)	KIF1B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 129399	NM_001365951.3(KIF1B):c.285C>G (p.Ala95=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign
Select item 648109	NM_001365951.3(KIF1B):c.287A>G (p.Tyr96Cys)	KIF1B (Y96C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1797288	NM_001365951.3(KIF1B):c.288T>C (p.Tyr96=)	KIF1B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1797687	NM_001365951.3(KIF1B):c.291G>A (p.Gly97=)	KIF1B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1798393	NM_001365951.3(KIF1B):c.297T>C (p.Thr99=)	KIF1B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2448720	NM_001365951.3(KIF1B):c.299G>T (p.Gly100Val)	KIF1B (G100V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1727549	NM_001365951.3(KIF1B):c.309A>G (p.Lys103=)	KIF1B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 291467	NM_001365951.3(KIF1B):c.315T>C (p.Tyr105=)	KIF1B	Single nucleotide variant (synonymous variant)	Neuroblastoma +3 more	GConflicting classifications of pathogenicity

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