ClinVar for Gene (Select 9296) - ClinVar

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Links from Gene

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3329580	NM_004231.4(ATP6V1F):c.161A>T (p.Gln54Leu)	ATP6V1F (Q54L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329569	NM_004231.4(ATP6V1F):c.319C>T (p.Arg107Cys)	ATP6V1F (R135C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245795	NC_000007.13:g.(?_128494167)_(128545556_?)del	ATP6V1F, FLNC +1 more	Deletion	Hypertrophic cardiomyopathy 26 +3 more	GPathogenic
Select item 3245794	NC_000007.13:g.(?_128470692)_(128694824_?)del	ATP6V1F, FLNC +3 more	Deletion	Hypertrophic cardiomyopathy 26 +3 more	GPathogenic
Select item 3245743	NC_000007.13:g.(?_128388409)_(128694824_?)del	ATP6V1F, CALU +6 more	Deletion	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 3131927	NM_004231.4(ATP6V1F):c.344C>T (p.Ala115Val)	ATP6V1F (A115V +1 more)	Single nucleotide variant (missense variant)	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 2610536	NM_004231.4(ATP6V1F):c.26C>G (p.Ala9Gly)	ATP6V1F, LOC129999275 (A9G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479799	NM_004231.4(ATP6V1F):c.208A>G (p.Ile70Val)	ATP6V1F (I70V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334166	NM_004231.4(ATP6V1F):c.259G>C (p.Ala87Pro)	ATP6V1F (A115P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278593	NM_004231.4(ATP6V1F):c.159-244C>T	ATP6V1F (L58F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249247	NM_004231.4(ATP6V1F):c.19C>T (p.Leu7Phe)	ATP6V1F, LOC129999275 (L7F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210462	NM_004231.4(ATP6V1F):c.211G>A (p.Ala71Thr)	ATP6V1F (A99T +1 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 1375554	NC_000007.13:g.(?_128470692)_(128694824_?)dup	ATP6V1F, FLNC +3 more	Duplication	Autosomal dominant limb-girdle muscular dystrophy type 1F +4 more	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 688715	GRCh37/hg19 7q32.1(chr7:128412321-128546131)x1	ATP6V1F, CALU +4 more	Copy number loss	not provided	GUncertain significance
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 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
Select item 57379	GRCh38/hg38 7q32.1-33(chr7:128747478-134018250)x3	AHCYL2, ATP6V1F +233 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 40