ClinVar for Gene (Select 346653) - ClinVar

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Links from Gene

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3280709	NM_001128926.4(GARIN1A):c.485T>G (p.Val162Gly)	GARIN1A (V76G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280708	NM_001128926.4(GARIN1A):c.148A>T (p.Ile50Phe)	GARIN1A (I50F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3280707	NM_001128926.4(GARIN1A):c.154-14A>T	GARIN1A (E56V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3280705	NM_001128926.4(GARIN1A):c.644C>T (p.Ala215Val)	GARIN1A (A129V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098341	NM_001128926.4(GARIN1A):c.877C>G (p.Leu293Val)	GARIN1A (L293V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098340	NM_001128926.4(GARIN1A):c.800G>A (p.Arg267Lys)	GARIN1A (R267K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098339	NM_001128926.4(GARIN1A):c.763C>T (p.Pro255Ser)	GARIN1A (P169S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098338	NM_001128926.4(GARIN1A):c.710A>G (p.Asn237Ser)	GARIN1A (N237S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098337	NM_001128926.4(GARIN1A):c.634G>A (p.Val212Met)	GARIN1A (V212M +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3098336	NM_001128926.4(GARIN1A):c.493C>G (p.Leu165Val)	GARIN1A (L174V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098335	NM_001128926.4(GARIN1A):c.479G>A (p.Arg160His)	GARIN1A (R169H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098334	NM_001128926.4(GARIN1A):c.380G>A (p.Arg127Gln)	GARIN1A (R127Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098333	NM_001128926.4(GARIN1A):c.220T>A (p.Ser74Thr)	GARIN1A (S74T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098332	NM_001128926.4(GARIN1A):c.202G>A (p.Val68Met)	GARIN1A (V77M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098331	NM_001128926.4(GARIN1A):c.172T>A (p.Trp58Arg)	GARIN1A (W67R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098330	NM_001128926.4(GARIN1A):c.166G>A (p.Gly56Arg)	GARIN1A (G56R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098329	NM_001128926.4(GARIN1A):c.148A>G (p.Ile50Val)	GARIN1A (I50V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062992	GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1	AASS, AGBL3 +100 more	Copy number loss	not specified	GPathogenic
Select item 2685269	GRCh37/hg19 7q31.33-32.2(chr7:127076892-129405807)x1	AHCYL2, ARF5 +26 more	Copy number loss	not provided	GPathogenic
Select item 2602269	NM_001128926.4(GARIN1A):c.751A>C (p.Lys251Gln)	GARIN1A (K165Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594746	NM_001128926.4(GARIN1A):c.627G>T (p.Glu209Asp)	GARIN1A (E123D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593193	NM_001128926.4(GARIN1A):c.740G>A (p.Cys247Tyr)	GARIN1A (C256Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591739	NM_001128926.4(GARIN1A):c.17G>T (p.Gly6Val)	GARIN1A (G6V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491673	NM_001128926.4(GARIN1A):c.392T>C (p.Ile131Thr)	GARIN1A (I131T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527395	GRCh37/hg19 7q32.1-34(chr7:127295698-139524358)	CHCHD3, CHRM2 +88 more	Copy number loss	not specified	GPathogenic
Select item 1527394	GRCh37/hg19 7q31.33-33(chr7:124103982-134693590)	BPGM, CALD1 +65 more	Copy number loss	not specified	GPathogenic
Select item 1527391	GRCh37/hg19 7q31.33-33(chr7:123967475-132729981)	ZC3HC1, ZNF800 +55 more	Copy number loss	not specified	GPathogenic
Select item 1527383	GRCh37/hg19 7q22.3-32.1(chr7:106984287-128949489)	PRRT4, PTPRZ1 +92 more	Copy number gain	not specified	GPathogenic
Select item 1340970	GRCh37/hg19 7q32.1(chr7:128024806-128373998)x3	GARIN1A, GARIN1B +3 more	Copy number gain	not provided	GUncertain significance
Select item 815033	GRCh37/hg19 7q32.1(chr7:128084932-128354937)x3	METTL2B, HILPDA +1 more	Copy number gain	not provided	GUncertain significance
Select item 815032	GRCh37/hg19 7q32.1(chr7:128038651-128369771)x3	HILPDA, GARIN1B +3 more	Copy number gain	not provided	GUncertain significance
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 687212	GRCh37/hg19 7q31.32-32.2(chr7:121480906-129389003)x1	AASS, AHCYL2 +46 more	Copy number loss	not provided	GPathogenic
Select item 686020	GRCh37/hg19 7q32.1(chr7:127999644-128465294)x3	CALU, CCDC136 +7 more	Copy number gain	not provided	GUncertain significance
Select item 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 154485	GRCh38/hg38 7q31.33-33(chr7:124170657-134163594)x1	COPG2, COPG2IT1 +342 more	Copy number loss	See cases	GPathogenic
Select item 154454	GRCh38/hg38 7q31.32-32.1(chr7:122018122-128907727)x1	AASS, ARF5 +163 more	Copy number loss	See cases	GPathogenic
Select item 153888	GRCh38/hg38 7q32.1(chr7:127817826-129237503)x3	IMPDH1, AHCYL2 +106 more	Copy number gain	See cases	GLikely benign
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	LOC129999373, LOC129999374 +492 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 60295	GRCh38/hg38 7q31.33-32.3(chr7:126859732-132750936)x1	LOC129999356, LOC129999357 +284 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 51