ClinVar for Gene (Select 6854) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3323884	NM_133625.6(SYN2):c.1519C>G (p.His507Asp)	SYN2 (H507D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323883	NM_133625.6(SYN2):c.1126C>T (p.His376Tyr)	SYN2 (H376Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323882	NM_133625.6(SYN2):c.1355G>A (p.Arg452Gln)	SYN2 (R452Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323881	NM_133625.6(SYN2):c.703A>G (p.Ile235Val)	SYN2 (I235V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3177584	NM_003256.4(TIMP4):c.602T>C (p.Val201Ala)	SYN2, TIMP4 (V201A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177583	NM_003256.4(TIMP4):c.491A>G (p.Tyr164Cys)	SYN2, TIMP4 (Y164C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177582	NM_003256.4(TIMP4):c.284C>T (p.Thr95Met)	SYN2, TIMP4 (T95M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177581	NM_003256.4(TIMP4):c.113A>G (p.Gln38Arg)	SYN2, TIMP4 (Q38R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172649	NM_133625.6(SYN2):c.943C>T (p.Arg315Trp)	SYN2 (R315W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172648	NM_133625.6(SYN2):c.797T>G (p.Val266Gly)	SYN2 (V266G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172647	NM_133625.6(SYN2):c.1639T>G (p.Phe547Val)	SYN2 (F547V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172646	NM_133625.6(SYN2):c.1411G>T (p.Val471Leu)	LOC129936166, SYN2 (V471L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172645	NM_133625.6(SYN2):c.1047G>A (p.Met349Ile)	SYN2 (M349I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 disorder	GBenign
Select item 3053612	NM_133625.6(SYN2):c.1620G>A (p.Ser540=)	SYN2	Single nucleotide variant (synonymous variant)	SYN2-related disorder	GBenign
Select item 3050302	NM_133625.6(SYN2):c.1370-4del	SYN2	Deletion (intron variant)	SYN2-related disorder	GLikely benign
Select item 3043360	NM_133625.6(SYN2):c.789G>T (p.Thr263=)	SYN2	Single nucleotide variant (synonymous variant)	SYN2-related disorder	GLikely benign
Select item 3042477	NM_133625.6(SYN2):c.578C>T (p.Ala193Val)	SYN2 (A193V)	Single nucleotide variant (missense variant)	SYN2-related disorder	GBenign
Select item 3038848	NM_133625.6(SYN2):c.383A>G (p.Lys128Arg)	SYN2 (K128R)	Single nucleotide variant (missense variant)	SYN2-related disorder	GBenign
Select item 3029391	NM_133625.6(SYN2):c.1308+1G>A	SYN2	Single nucleotide variant (splice donor variant)	SYN2-related disorder	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)	not specified	GUncertain significance
Select item 2603227	NM_003256.4(TIMP4):c.97G>A (p.Ala33Thr)	SYN2, TIMP4 (A33T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598014	NM_003256.4(TIMP4):c.71C>A (p.Pro24Gln)	SYN2, TIMP4 (P24Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593554	NM_133625.6(SYN2):c.1502C>T (p.Pro501Leu)	SYN2 (P501L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592763	NM_003256.4(TIMP4):c.403G>A (p.Glu135Lys)	SYN2, TIMP4 (E135K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591632	NM_003256.4(TIMP4):c.131C>T (p.Ser44Leu)	SYN2, TIMP4 (S44L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589963	NM_133625.6(SYN2):c.721G>A (p.Gly241Arg)	SYN2 (G241R)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2515791	NM_133625.6(SYN2):c.1666C>T (p.Arg556Trp)	SYN2 (R556W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514331	NM_003256.4(TIMP4):c.71C>T (p.Pro24Leu)	SYN2, TIMP4 (P24L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473242	NM_003256.4(TIMP4):c.383T>G (p.Ile128Ser)	SYN2, TIMP4 (I128S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467118	NM_003256.4(TIMP4):c.433A>G (p.Arg145Gly)	SYN2, TIMP4 (R145G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466134	NM_003256.4(TIMP4):c.593T>C (p.Met198Thr)	SYN2, TIMP4 (M198T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460416	NM_133625.6(SYN2):c.1481C>T (p.Ser494Phe)	LOC129936166, SYN2 (S494F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2458370	NM_003256.4(TIMP4):c.122T>C (p.Ile41Thr)	SYN2, TIMP4 (I41T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394950	NM_133625.6(SYN2):c.1426C>T (p.Arg476Trp)	LOC129936166, SYN2 (R476W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383584	NM_133625.6(SYN2):c.743A>G (p.Glu248Gly)	SYN2 (E248G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382537	NM_003256.4(TIMP4):c.664G>A (p.Val222Ile)	SYN2, TIMP4 (V222I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2373112	NM_133625.6(SYN2):c.1670C>G (p.Ser557Cys)	SYN2 (S557C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364519	NM_003256.4(TIMP4):c.400A>G (p.Ile134Val)	SYN2, TIMP4 (I134V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343741	NM_133625.6(SYN2):c.1499G>T (p.Arg500Leu)	SYN2 (R500L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337012	NM_003256.4(TIMP4):c.125G>A (p.Cys42Tyr)	SYN2, TIMP4 (C42Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333608	NM_003256.4(TIMP4):c.52C>G (p.Leu18Val)	SYN2, TIMP4 (L18V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318906	NM_133625.6(SYN2):c.851A>G (p.Asn284Ser)	SYN2 (N284S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277647	NM_003256.4(TIMP4):c.161G>A (p.Ser54Asn)	SYN2, TIMP4 (S54N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269776	NM_003256.4(TIMP4):c.348G>C (p.Leu116Phe)	SYN2, TIMP4 (L116F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262987	NM_003256.4(TIMP4):c.393C>G (p.Cys131Trp)	SYN2, TIMP4 (C131W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262376	NM_133625.6(SYN2):c.547G>A (p.Val183Met)	SYN2 (V183M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254555	NM_133625.6(SYN2):c.1363C>A (p.Pro455Thr)	SYN2 (P455T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254384	NM_003256.4(TIMP4):c.53T>C (p.Leu18Pro)	SYN2, TIMP4 (L18P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237597	NM_133625.6(SYN2):c.608T>C (p.Ile203Thr)	SYN2 (I203T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223366	NM_133625.6(SYN2):c.908C>T (p.Thr303Ile)	SYN2 (T303I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220412	NM_133625.6(SYN2):c.1096G>A (p.Gly366Ser)	SYN2 (G366S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209533	NM_133625.6(SYN2):c.1522G>A (p.Gly508Arg)	SYN2 (G508R)	Single nucleotide variant (missense variant)	not specified	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	TIMP4, VGLL4 +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)	not provided	GBenign
Select item 745640	NM_003256.4(TIMP4):c.402C>T (p.Ile134=)	SYN2, TIMP4	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	ANKRD28, APRG1 +155 more	Copy number gain	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +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	TRIM71, TRNT1 +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	ACAA1, ACVR2B +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	ARL8B, ARPC4 +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	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 148234	GRCh38/hg38 3p26.1-25.2(chr3:7975734-12636917)x3	ARPC4, ARPC4-TTLL3 +190 more	Copy number gain	See cases	GLikely pathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +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	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 89