ClinVar for Gene (Select 10250) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3170098	NM_005839.4(SRRM1):c.872G>A (p.Arg291His)	SRRM1 (R208H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170097	NM_005839.4(SRRM1):c.866G>A (p.Arg289Gln)	SRRM1 (R206Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170096	NM_005839.4(SRRM1):c.842G>A (p.Arg281His)	SRRM1 (R251H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170095	NM_005839.4(SRRM1):c.730A>T (p.Ile244Phe)	SRRM1 (I175F +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170094	NM_005839.4(SRRM1):c.715A>G (p.Thr239Ala)	SRRM1 (T200A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170093	NM_005839.4(SRRM1):c.2382G>A (p.Pro794=)	SRRM1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3170092	NM_005839.4(SRRM1):c.2021G>A (p.Arg674Gln)	SRRM1 (R658Q +24 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170091	NM_005839.4(SRRM1):c.1736G>A (p.Arg579Gln)	SRRM1 (R479Q +24 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170090	NM_005839.4(SRRM1):c.1675C>T (p.Arg559Trp)	SRRM1 (R490W +24 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170089	NM_005839.4(SRRM1):c.1619C>T (p.Thr540Ile)	SRRM1 (T426I +15 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685377	GRCh37/hg19 1p36.11(chr1:24680971-25029622)x1	GRHL3, NCMAP +4 more	Copy number loss	not provided	GUncertain significance
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC112577491, LOC112577504 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2611188	NM_005839.4(SRRM1):c.2509G>A (p.Val837Met)	SRRM1 (V738M +24 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599692	NM_005839.4(SRRM1):c.871C>G (p.Arg291Gly)	SRRM1 (R291G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551659	NM_005839.4(SRRM1):c.2594C>T (p.Ala865Val)	SRRM1 (A765V +24 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2532513	NM_005839.4(SRRM1):c.2252G>C (p.Arg751Pro)	SRRM1 (R681P +24 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529839	NM_005839.4(SRRM1):c.1898G>A (p.Arg633Gln)	SRRM1 (R533Q +24 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485799	NM_005839.4(SRRM1):c.1145C>T (p.Pro382Leu)	SRRM1 (P382L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470931	NM_005839.4(SRRM1):c.877C>T (p.Pro293Ser)	SRRM1 (P254S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464959	NM_005839.4(SRRM1):c.523C>T (p.Arg175Cys)	SRRM1 (R92C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2455699	NM_005839.4(SRRM1):c.1952G>T (p.Arg651Ile)	SRRM1 (R538I +24 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455698	NM_005839.4(SRRM1):c.1953A>C (p.Arg651Ser)	SRRM1 (R582S +24 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400028	NM_005839.4(SRRM1):c.2393C>T (p.Pro798Leu)	SRRM1 (P699L +24 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398075	NM_005839.4(SRRM1):c.2012G>A (p.Arg671Gln)	SRRM1 (R601Q +24 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389054	NM_005839.4(SRRM1):c.1757C>T (p.Pro586Leu)	SRRM1 (P531L +24 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380843	NM_005839.4(SRRM1):c.2098G>C (p.Val700Leu)	SRRM1 (V616L +24 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377987	NM_005839.4(SRRM1):c.2276C>T (p.Pro759Leu)	SRRM1 (P646L +24 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363510	NM_005839.4(SRRM1):c.2003G>A (p.Arg668His)	SRRM1 (R583H +24 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336349	NM_005839.4(SRRM1):c.2344C>T (p.Pro782Ser)	SRRM1 (P713S +24 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335614	NM_005839.4(SRRM1):c.517A>G (p.Arg173Gly)	SRRM1 (R173G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334871	NM_005839.4(SRRM1):c.2374C>T (p.Pro792Ser)	SRRM1 (P693S +24 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309424	NM_005839.4(SRRM1):c.1241C>T (p.Ser414Phe)	SRRM1 (S301F +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305657	NM_005839.4(SRRM1):c.775C>A (p.Pro259Thr)	SRRM1 (P176T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278264	NM_005839.4(SRRM1):c.1288G>C (p.Val430Leu)	SRRM1 (V317L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253507	NM_005839.4(SRRM1):c.2332A>G (p.Thr778Ala)	SRRM1 (T678A +24 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252280	NM_005839.4(SRRM1):c.1096C>T (p.Arg366Cys)	SRRM1 (R253C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247721	NM_005839.4(SRRM1):c.1886C>T (p.Pro629Leu)	SRRM1 (P530L +24 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243897	NM_005839.4(SRRM1):c.2420G>A (p.Gly807Asp)	SRRM1 (G707D +24 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233693	NM_005839.4(SRRM1):c.1601G>A (p.Arg534Gln)	SRRM1 (R448Q +15 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218778	NM_005839.4(SRRM1):c.1999A>G (p.Ser667Gly)	SRRM1 (S554G +24 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210216	NM_005839.4(SRRM1):c.2327C>T (p.Pro776Leu)	SRRM1 (P663L +24 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209154	NM_005839.4(SRRM1):c.1709G>A (p.Arg570His)	SRRM1 (R471H +24 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 929347	GRCh37/hg19 1p36.11(chr1:24394811-25148686)x3	CLIC4, GRHL3 +8 more	Copy number gain	See cases	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LOC129929733, LOC129929734 +1145 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 47