ClinVar for Gene (Select 83851) - ClinVar

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Links from Gene

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3172987	NM_001367656.1(SYT16):c.823T>C (p.Cys275Arg)	SYT16 (C165R +4 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3172986	NM_001367656.1(SYT16):c.782A>G (p.Tyr261Cys)	SYT16 (Y261C +4 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3172985	NM_001367656.1(SYT16):c.626G>A (p.Arg209His)	SYT16 (R97H +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3172984	NM_001367656.1(SYT16):c.520C>A (p.Gln174Lys)	SYT16 (Q174K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172983	NM_001367656.1(SYT16):c.374A>G (p.Asn125Ser)	SYT16 (N125S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3172982	NM_001367656.1(SYT16):c.1849A>G (p.Ser617Gly)	SYT16 (S434G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172981	NM_001367656.1(SYT16):c.1694G>A (p.Arg565Gln)	SYT16 (R455Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172980	NM_001367656.1(SYT16):c.1333C>G (p.Arg445Gly)	LOC130055800, SYT16 (R333G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685487	GRCh37/hg19 14q22.3-23.2(chr14:55667390-64447598)x1	HIF1A, HIF1A-AS2 +47 more	Copy number loss	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2684726	GRCh37/hg19 14q22.3-24.1(chr14:57588965-68334517)x3	ACTR10, AKAP5 +71 more	Copy number gain	not provided	GLikely pathogenic
Select item 2619957	NM_001367656.1(SYT16):c.496T>G (p.Leu166Val)	SYT16 (L166V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615654	NM_001367656.1(SYT16):c.1783G>A (p.Val595Ile)	SYT16 (V289I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2555087	NM_001367656.1(SYT16):c.232C>G (p.Gln78Glu)	SYT16 (Q78E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553116	NM_001367656.1(SYT16):c.344A>G (p.Asp115Gly)	SYT16 (D115G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547696	NM_001367656.1(SYT16):c.805G>C (p.Ala269Pro)	SYT16 (A157P +4 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2538797	NM_001367656.1(SYT16):c.418A>C (p.Ile140Leu)	SYT16 (I140L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493750	NM_001367656.1(SYT16):c.1625A>G (p.Asp542Gly)	SYT16 (D236G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486886	NM_001367656.1(SYT16):c.1022C>A (p.Pro341Gln)	SYT16 (P158Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472044	NM_001367656.1(SYT16):c.1331C>T (p.Thr444Ile)	LOC130055800, SYT16 (T138I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469571	NM_001367656.1(SYT16):c.553T>G (p.Ser185Ala)	SYT16 (S75A +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2463607	NM_001367656.1(SYT16):c.244A>C (p.Asn82His)	SYT16 (N82H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460883	NM_001367656.1(SYT16):c.94G>A (p.Gly32Arg)	SYT16 (G32R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454841	NM_001367656.1(SYT16):c.760C>T (p.Arg254Cys)	SYT16 (R142C +4 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2410187	NM_001367656.1(SYT16):c.611G>A (p.Arg204Gln)	SYT16 (R204Q +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2389699	NM_001367656.1(SYT16):c.1151G>T (p.Gly384Val)	SYT16 (G272V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386952	NM_001367656.1(SYT16):c.761G>A (p.Arg254His)	SYT16 (R142H +4 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2372523	NM_001367656.1(SYT16):c.757C>T (p.Arg253Trp)	SYT16 (R143W +4 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2370487	NM_001367656.1(SYT16):c.1135G>C (p.Asp379His)	SYT16 (D196H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367175	NM_001367656.1(SYT16):c.827A>G (p.Glu276Gly)	SYT16 (E164G +4 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2355542	NM_001367656.1(SYT16):c.892C>T (p.Arg298Cys)	SYT16 (R298C +4 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2342662	NM_001367656.1(SYT16):c.686G>A (p.Arg229His)	SYT16 (R117H +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2337657	NM_001367656.1(SYT16):c.1286C>T (p.Ala429Val)	LOC130055800, SYT16 (A123V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310933	NM_001367656.1(SYT16):c.1493C>T (p.Thr498Met)	SYT16 (T498M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310049	NM_001367656.1(SYT16):c.583A>G (p.Ile195Val)	SYT16 (I85V +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2293075	NM_001367656.1(SYT16):c.1355A>G (p.Lys452Arg)	SYT16 (K146R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286900	NM_001367656.1(SYT16):c.800T>C (p.Ile267Thr)	SYT16 (I155T +4 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2255309	NM_001367656.1(SYT16):c.129C>G (p.Ser43Arg)	SYT16 (S43R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249363	NM_001367656.1(SYT16):c.1300C>T (p.Arg434Cys)	LOC130055800, SYT16 (R253C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248519	NM_001367656.1(SYT16):c.1087G>A (p.Ala363Thr)	SYT16 (A182T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226638	NM_001367656.1(SYT16):c.1709A>G (p.Asn570Ser)	SYT16 (N458S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223416	NM_001367656.1(SYT16):c.1697G>A (p.Arg566His)	SYT16 (R385H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1807640	GRCh37/hg19 14q22.3-23.2(chr14:57804997-63590203)x1	ACTR10, ARID4A +32 more	Copy number loss	not provided	GLikely pathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	AP5M1, EXOC5 +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 980604	GRCh37/hg19 14q23.1-23.3(chr14:61409856-65742610)x3	FNTB, AKAP5 +29 more	Copy number gain	not provided	GLikely pathogenic
Select item 973046	GRCh37/hg19 14q23.1-23.2(chr14:61701451-62960957)	HIF1A, HIF1A-AS2 +4 more	Copy number gain	not provided	Gnot provided
Select item 684991	GRCh37/hg19 14q23.1-23.2(chr14:61126208-63517651)x3	HIF1A, HIF1A-AS2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 684448	Single allele	HIF1A, HIF1A-AS2 +4 more	Duplication	not provided	Gnot provided
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ERG28, OR11G2 +635 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 149300	GRCh38/hg38 14q23.1-23.2(chr14:57653413-64093528)x1	ACTR10, ARID4A +202 more	Copy number loss	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 57781	GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1	ACTR10, AKAP5 +344 more	Copy number loss	See cases	GPathogenic
Select item 57228	GRCh38/hg38 14q23.1-23.3(chr14:59917051-66750803)x1	LOC132090233, LOC132090234 +264 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 56