ClinVar for Gene (Select 6854) - ClinVar

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Links from Gene

Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 3059730	NM_133625.6(SYN2):c.1698A>G (p.Ala566=)	SYN2	Single nucleotide variant (synonymous variant)	SYN2-related condition	GBenign
Select item 3053612	NM_133625.6(SYN2):c.1620G>A (p.Ser540=)	SYN2	Single nucleotide variant (synonymous variant)	SYN2-related condition	GBenign
Select item 3050302	NM_133625.6(SYN2):c.1370-4del	SYN2	Deletion (intron variant)	SYN2-related condition	GLikely benign
Select item 3043360	NM_133625.6(SYN2):c.789G>T (p.Thr263=)	SYN2	Single nucleotide variant (synonymous variant)	SYN2-related condition	GLikely benign
Select item 3042477	NM_133625.6(SYN2):c.578C>T (p.Ala193Val)	SYN2 (A193V)	Single nucleotide variant (missense variant)	SYN2-related condition	GBenign
Select item 3038848	NM_133625.6(SYN2):c.383A>G (p.Lys128Arg)	SYN2 (K128R)	Single nucleotide variant (missense variant)	SYN2-related condition	GBenign
Select item 3029391	NM_133625.6(SYN2):c.1308+1G>A	SYN2	Single nucleotide variant (splice donor variant)	SYN2-related condition	GUncertain significance
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 2653538	NM_133625.6(SYN2):c.161C>T (p.Ala54Val)	SYN2 (A54V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2619709	NM_003256.4(TIMP4):c.439A>G (p.Ser147Gly)	SYN2, TIMP4 (S147G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2603227	NM_003256.4(TIMP4):c.97G>A (p.Ala33Thr)	SYN2, TIMP4 (A33T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2598014	NM_003256.4(TIMP4):c.71C>A (p.Pro24Gln)	SYN2, TIMP4 (P24Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2593554	NM_133625.6(SYN2):c.1502C>T (p.Pro501Leu)	SYN2 (P501L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592763	NM_003256.4(TIMP4):c.403G>A (p.Glu135Lys)	SYN2, TIMP4 (E135K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2591632	NM_003256.4(TIMP4):c.131C>T (p.Ser44Leu)	SYN2, TIMP4 (S44L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2589963	NM_133625.6(SYN2):c.721G>A (p.Gly241Arg)	SYN2 (G241R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580292	GRCh37/hg19 3p25.3-25.2(chr3:10167260-12533766)x1	ATG7, ATP2B2 +16 more	Copy number loss	See cases	GPathogenic
Select item 2516358	NM_003256.4(TIMP4):c.574G>A (p.Ala192Thr)	SYN2, TIMP4 (A192T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2515791	NM_133625.6(SYN2):c.1666C>T (p.Arg556Trp)	SYN2 (R556W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514331	NM_003256.4(TIMP4):c.71C>T (p.Pro24Leu)	SYN2, TIMP4 (P24L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2473242	NM_003256.4(TIMP4):c.383T>G (p.Ile128Ser)	SYN2, TIMP4 (I128S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2467118	NM_003256.4(TIMP4):c.433A>G (p.Arg145Gly)	SYN2, TIMP4 (R145G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2466134	NM_003256.4(TIMP4):c.593T>C (p.Met198Thr)	SYN2, TIMP4 (M198T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2460416	NM_133625.6(SYN2):c.1481C>T (p.Ser494Phe)	LOC129936166, SYN2 (S494F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2458370	NM_003256.4(TIMP4):c.122T>C (p.Ile41Thr)	SYN2, TIMP4 (I41T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2394950	NM_133625.6(SYN2):c.1426C>T (p.Arg476Trp)	LOC129936166, SYN2 (R476W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383584	NM_133625.6(SYN2):c.743A>G (p.Glu248Gly)	SYN2 (E248G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382537	NM_003256.4(TIMP4):c.664G>A (p.Val222Ile)	TIMP4, SYN2 (V222I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2373112	NM_133625.6(SYN2):c.1670C>G (p.Ser557Cys)	SYN2 (S557C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364519	NM_003256.4(TIMP4):c.400A>G (p.Ile134Val)	SYN2, TIMP4 (I134V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2343741	NM_133625.6(SYN2):c.1499G>T (p.Arg500Leu)	SYN2 (R500L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337012	NM_003256.4(TIMP4):c.125G>A (p.Cys42Tyr)	SYN2, TIMP4 (C42Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2333608	NM_003256.4(TIMP4):c.52C>G (p.Leu18Val)	SYN2, TIMP4 (L18V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2318906	NM_133625.6(SYN2):c.851A>G (p.Asn284Ser)	SYN2 (N284S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277647	NM_003256.4(TIMP4):c.161G>A (p.Ser54Asn)	TIMP4, SYN2 (S54N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2269776	NM_003256.4(TIMP4):c.348G>C (p.Leu116Phe)	TIMP4, SYN2 (L116F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2262987	NM_003256.4(TIMP4):c.393C>G (p.Cys131Trp)	TIMP4, SYN2 (C131W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2262376	NM_133625.6(SYN2):c.547G>A (p.Val183Met)	SYN2 (V183M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254555	NM_133625.6(SYN2):c.1363C>A (p.Pro455Thr)	SYN2 (P455T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254384	NM_003256.4(TIMP4):c.53T>C (p.Leu18Pro)	TIMP4, SYN2 (L18P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2237597	NM_133625.6(SYN2):c.608T>C (p.Ile203Thr)	SYN2 (I203T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223366	NM_133625.6(SYN2):c.908C>T (p.Thr303Ile)	SYN2 (T303I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220412	NM_133625.6(SYN2):c.1096G>A (p.Gly366Ser)	SYN2 (G366S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209533	NM_133625.6(SYN2):c.1522G>A (p.Gly508Arg)	SYN2 (G508R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1709227	NM_133625.6(SYN2):c.1585C>T (p.Gln529Ter)	SYN2 (Q529*)	Single nucleotide variant (nonsense)	Schizophrenia	GUncertain significance
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1526967	GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)	ANKRD28, ARL8B +112 more	Copy number gain	not specified	GPathogenic
Select item 1340006	GRCh37/hg19 3p25.3-25.2(chr3:10922740-12456978)x1	ATG7, HRH1 +7 more	Copy number loss	not provided	GPathogenic
Select item 1339872	GRCh37/hg19 3p25.3-25.2(chr3:10970972-12295919)x1	ATG7, HRH1 +6 more	Copy number loss	Schizophrenia	Gnot provided
Select item 1298153	NM_133625.6(SYN2):c.1516A>G (p.Thr506Ala)	SYN2 (T506A)	Single nucleotide variant (missense variant)	SYN2-related condition +1 more	GBenign
Select item 745640	NM_003256.4(TIMP4):c.402C>T (p.Ile134=)	TIMP4, SYN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 709372	NM_003256.4(TIMP4):c.63G>A (p.Leu21=)	SYN2, TIMP4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 562744	GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3	ANKRD28, ARL8B +84 more	Copy number gain	not provided	GPathogenic
Select item 562726	GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3	ANKRD28, ARL8B +98 more	Copy number gain	not provided	GPathogenic
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	FANCD2OS, FBLN2 +155 more	Copy number gain	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442264	GRCh37/hg19 3p26.3-25.2(chr3:61891-12575409)x1	ARL8B, ARPC4 +60 more	Copy number loss	See cases	GPathogenic
Select item 441705	GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	ANKRD28, ARL8B +145 more	Copy number gain	See cases	GPathogenic
Select item 424195	NM_133625.6(SYN2):c.905C>G (p.Ala302Gly)	SYN2 (A302G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 423020	NM_133625.6(SYN2):c.1571del (p.Leu524fs)	SYN2 (L524fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 392415	NM_133625.6(SYN2):c.1369+21G>C	SYN2 (D464H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 253614	GRCh37/hg19 3p25.3-25.2(chr3:8922160-12338637)x1	ARPC4, ARPC4-TTLL3 +39 more	Copy number loss	See cases	GPathogenic
Select item 155699	GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3	ARPC4, ARPC4-TTLL3 +307 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	LOC129936377, LOC129936378 +1111 more	Copy number gain	See cases	GPathogenic
Select item 150031	GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3	ARL8B, ARPC4 +406 more	Copy number gain	See cases	GPathogenic
Select item 149085	GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1	LOC112935932, LOC112935963 +331 more	Copy number loss	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936094, LOC129936095 +647 more	Copy number gain	See cases	GPathogenic
Select item 148234	GRCh38/hg38 3p26.1-25.2(chr3:7975734-12636917)x3	LOC129929025, LOC129929026 +190 more	Copy number gain	See cases	GLikely pathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	ACAA1, ACVR2B +730 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 57766	GRCh38/hg38 3p25.3-25.2(chr3:10019780-12251358)x1	ATG7, ATP2B2 +79 more	Copy number loss	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	ANKRD28, ARL8B +962 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 75