ClinVar for Gene (Select 10250) - ClinVar

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

Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3322689	NM_005839.4(SRRM1):c.1070G>C (p.Gly357Ala)	SRRM1 (G244A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322688	NM_005839.4(SRRM1):c.1991C>G (p.Ser664Cys)	SRRM1 (S551C +24 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322687	NM_005839.4(SRRM1):c.1310G>C (p.Gly437Ala)	SRRM1 (G398A +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3322686	NM_005839.4(SRRM1):c.1418T>C (p.Met473Thr)	SRRM1 (M359T +15 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322685	NM_005839.4(SRRM1):c.872G>C (p.Arg291Pro)	SRRM1 (R222P +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322684	NM_005839.4(SRRM1):c.496A>G (p.Arg166Gly)	SRRM1 (R127G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322683	NM_005839.4(SRRM1):c.430A>G (p.Met144Val)	SRRM1 (M105V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322682	NM_005839.4(SRRM1):c.1268C>G (p.Thr423Arg)	SRRM1 (T384R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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	A2ML1-AS2, A3GALT2 +2151 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	NKAIN1, PLA2G2E +783 more	Copy number gain	Global developmental delay +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 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: 55