GARIN1B[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC111674474, LOC111674475 +2212 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	LOC129999548, LOC129999549 +1547 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 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	LOC129999653, LOC129999654 +1380 more	Copy number gain	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 154485	GRCh38/hg38 7q31.33-33(chr7:124170657-134163594)x1	COPG2, COPG2IT1 +342 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
Select item 153888	GRCh38/hg38 7q32.1(chr7:127817826-129237503)x3	IMPDH1, AHCYL2 +106 more	Copy number gain	See cases	GLikely benign
Select item 3098352	NM_001282788.3(GARIN1B):c.95C>T (p.Ala32Val)	GARIN1B (A32V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 710332	NM_001282788.3(GARIN1B):c.172C>T (p.Leu58=)	GARIN1B	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3098342	NM_001282788.3(GARIN1B):c.182G>A (p.Arg61Gln)	GARIN1B (R61Q)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3098344	NM_001282788.3(GARIN1B):c.310G>T (p.Val104Leu)	GARIN1B (G25V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098345	NM_001282788.3(GARIN1B):c.386A>G (p.Asn129Ser)	GARIN1B (N129S)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2546713	NM_001282788.3(GARIN1B):c.472G>A (p.Asp158Asn)	GARIN1B (D158N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3098346	NM_001282788.3(GARIN1B):c.631C>A (p.Leu211Ile)	GARIN1B (L112I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 717153	NM_001282788.3(GARIN1B):c.687+7G>A	GARIN1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3098347	NM_001282788.3(GARIN1B):c.751G>T (p.Gly251Trp)	GARIN1B (G251W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098348	NM_001282788.3(GARIN1B):c.782C>T (p.Ala261Val)	GARIN1B (A162V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098349	NM_001282788.3(GARIN1B):c.818G>C (p.Arg273Thr)	GARIN1B (R174T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493309	NM_001282788.3(GARIN1B):c.854A>T (p.Asp285Val)	GARIN1B (D186V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098350	NM_001282788.3(GARIN1B):c.862C>T (p.Arg288Cys)	GARIN1B (R189C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098351	NM_001282788.3(GARIN1B):c.914C>T (p.Thr305Met)	GARIN1B (T305M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522327	NM_001282788.3(GARIN1B):c.919G>A (p.Gly307Arg)	GARIN1B (G208R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510532	NM_001282788.3(GARIN1B):c.974C>T (p.Thr325Ile)	GARIN1B (T325I +2 more)	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 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 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

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Items: 44