"Ambry Genetics"[submitter] AND "SRRM1"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2335614	NM_005839.4(SRRM1):c.517A>G (p.Arg173Gly)	SRRM1 (R173G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2532513	NM_005839.4(SRRM1):c.2252G>C (p.Arg751Pro)	SRRM1 (R681P +24 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2611188	NM_005839.4(SRRM1):c.2509G>A (p.Val837Met)	SRRM1 (V738M +24 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GLikely benign

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Items: 30