ClinVar for Gene (Select 136263) - ClinVar

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Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062992	GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1	AASS, AGBL3 +100 more	Copy number loss	not specified	GPathogenic
Select item 2547568	NM_145268.4(SSMEM1):c.510C>A (p.His170Gln)	SSMEM1 (H170Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546528	NM_145268.4(SSMEM1):c.346G>A (p.Glu116Lys)	SSMEM1 (E116K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525259	NM_145268.4(SSMEM1):c.292T>C (p.Ser98Pro)	SSMEM1 (S98P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490821	NM_145268.4(SSMEM1):c.559A>T (p.Asn187Tyr)	SSMEM1 (N187Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409319	NM_145268.4(SSMEM1):c.632C>T (p.Ala211Val)	SSMEM1 (A211V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2373858	NM_145268.4(SSMEM1):c.418C>G (p.Gln140Glu)	SSMEM1 (Q140E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365648	NM_145268.4(SSMEM1):c.644G>A (p.Arg215Gln)	SSMEM1 (R215Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2347122	NM_145268.4(SSMEM1):c.461A>G (p.Glu154Gly)	SSMEM1 (E154G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314375	NM_145268.4(SSMEM1):c.582C>A (p.Ser194Arg)	SSMEM1 (S194R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2274236	NM_145268.4(SSMEM1):c.568A>C (p.Ser190Arg)	SSMEM1 (S190R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261743	NM_145268.4(SSMEM1):c.422A>G (p.Asn141Ser)	SSMEM1 (N141S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209714	NM_145268.4(SSMEM1):c.224C>G (p.Thr75Ser)	SSMEM1 (T75S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1809263	GRCh37/hg19 7q32.2(chr7:129442838-129877274)x3	KLHDC10, SSMEM1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1808208	GRCh37/hg19 7q32.1-33(chr7:129147455-132777678)x1	CEP41, CHCHD3 +25 more	Copy number loss	not provided	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 979795	GRCh37/hg19 7q32.2-33(chr7:129605827-133093756)x3	CPA5, MEST +20 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 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic
Select item 617479	Single allele	MIR183, PARP12 +74 more	Complex	Renal transitional cell carcinoma	GLikely pathogenic
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	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +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	LOC129999315, LOC129999316 +342 more	Copy number loss	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 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	CADPS2, CALD1 +1380 more	Copy number gain	See cases	GPathogenic
Select item 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	AASS, AHCYL2 +492 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129998995, LOC129998996 +2212 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 60295	GRCh38/hg38 7q31.33-32.3(chr7:126859732-132750936)x1	LOC129999254, LOC129999255 +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
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 38