ClinVar for Gene (Select 136263) - ClinVar

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

Links from Gene

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3322828	NM_145268.4(SSMEM1):c.89G>C (p.Trp30Ser)	SSMEM1 (W30S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322827	NM_145268.4(SSMEM1):c.508C>A (p.His170Asn)	SSMEM1 (H170N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322826	NM_145268.4(SSMEM1):c.698C>T (p.Ser233Phe)	SSMEM1 (S233F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170420	NM_145268.4(SSMEM1):c.38C>T (p.Pro13Leu)	SSMEM1 (P13L)	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 2547568	NM_145268.4(SSMEM1):c.510C>A (p.His170Gln)	SSMEM1 (H170Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546528	NM_145268.4(SSMEM1):c.346G>A (p.Glu116Lys)	SSMEM1 (E116K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525259	NM_145268.4(SSMEM1):c.292T>C (p.Ser98Pro)	SSMEM1 (S98P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490821	NM_145268.4(SSMEM1):c.559A>T (p.Asn187Tyr)	SSMEM1 (N187Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409319	NM_145268.4(SSMEM1):c.632C>T (p.Ala211Val)	SSMEM1 (A211V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2373858	NM_145268.4(SSMEM1):c.418C>G (p.Gln140Glu)	SSMEM1 (Q140E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365648	NM_145268.4(SSMEM1):c.644G>A (p.Arg215Gln)	SSMEM1 (R215Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2347122	NM_145268.4(SSMEM1):c.461A>G (p.Glu154Gly)	SSMEM1 (E154G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314375	NM_145268.4(SSMEM1):c.582C>A (p.Ser194Arg)	SSMEM1 (S194R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2274236	NM_145268.4(SSMEM1):c.568A>C (p.Ser190Arg)	SSMEM1 (S190R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261743	NM_145268.4(SSMEM1):c.422A>G (p.Asn141Ser)	SSMEM1 (N141S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209714	NM_145268.4(SSMEM1):c.224C>G (p.Thr75Ser)	SSMEM1 (T75S)	Single nucleotide variant (missense variant)	not specified	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	DGKI, SVOPL +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	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 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
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 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: 42