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

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3170082	NM_001013694.3(SRRD):c.10G>C (p.Ala4Pro)	LOC130067147, SRRD (A4P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322680	NM_001013694.3(SRRD):c.29A>G (p.Glu10Gly)	LOC130067147, SRRD (E10G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306635	NM_001013694.3(SRRD):c.36G>C (p.Trp12Cys)	LOC130067147, SRRD (W12C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303425	NM_001013694.3(SRRD):c.56A>G (p.Lys19Arg)	LOC130067147, SRRD (K19R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2242327	NM_001013694.3(SRRD):c.64T>G (p.Ser22Ala)	SRRD (S22A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170088	NM_001013694.3(SRRD):c.74G>A (p.Arg25Gln)	SRRD (R25Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234297	NM_001013694.3(SRRD):c.82C>G (p.Arg28Gly)	LOC130067148, SRRD (R28G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385785	NM_001013694.3(SRRD):c.116C>T (p.Ala39Val)	LOC130067148, SRRD (A39V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457097	NM_001013694.3(SRRD):c.119C>T (p.Ala40Val)	LOC130067148, SRRD (A40V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460526	NM_001013694.3(SRRD):c.140C>T (p.Ala47Val)	LOC130067148, SRRD (A47V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170083	NM_001013694.3(SRRD):c.151C>A (p.Pro51Thr)	LOC130067148, SRRD (P51T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525193	NM_001013694.3(SRRD):c.173A>G (p.Asp58Gly)	SRRD (D58G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170084	NM_001013694.3(SRRD):c.296C>A (p.Ala99Asp)	SRRD (A99D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551964	NM_001013694.3(SRRD):c.298C>T (p.Pro100Ser)	SRRD (P100S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544339	NM_001013694.3(SRRD):c.305G>A (p.Gly102Glu)	SRRD (G102E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213539	NM_001013694.3(SRRD):c.342C>G (p.Asp114Glu)	SRRD (D114E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170085	NM_001013694.3(SRRD):c.365T>C (p.Val122Ala)	SRRD (V122A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234485	NM_001013694.3(SRRD):c.397G>A (p.Val133Ile)	SRRD (V133I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322681	NM_001013694.3(SRRD):c.454T>G (p.Cys152Gly)	SRRD (C152G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170086	NM_001013694.3(SRRD):c.500A>G (p.Glu167Gly)	SRRD (E167G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508262	NM_001013694.3(SRRD):c.607G>A (p.Glu203Lys)	SRRD (E203K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343511	NM_001013694.3(SRRD):c.694A>C (p.Ser232Arg)	SRRD (S232R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225464	NM_001013694.3(SRRD):c.726G>A (p.Met242Ile)	SRRD (M242I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290595	NM_001013694.3(SRRD):c.733A>G (p.Ile245Val)	SRRD (I245V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409221	NM_001013694.3(SRRD):c.747C>G (p.Phe249Leu)	SRRD (F249L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569117	NM_001013694.3(SRRD):c.796C>A (p.Pro266Thr)	SRRD (P266T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516689	NM_001013694.3(SRRD):c.803T>C (p.Ile268Thr)	SRRD (I268T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359610	NM_001013694.3(SRRD):c.878C>T (p.Thr293Ile)	SRRD, TFIP11 (T293I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3322679	NM_001013694.3(SRRD):c.925G>A (p.Asp309Asn)	SRRD, TFIP11 (D309N)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2310283	NM_012143.4(TFIP11):c.2349G>T (p.Glu783Asp)	SRRD, TFIP11 (E752D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401560	NM_012143.4(TFIP11):c.2291T>C (p.Val764Ala)	SRRD, TFIP11 (V733A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481740	NM_012143.4(TFIP11):c.2288G>C (p.Gly763Ala)	SRRD, TFIP11 (G732A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303584	NM_012143.4(TFIP11):c.2248G>A (p.Glu750Lys)	SRRD, TFIP11 (E750K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597828	NM_012143.4(TFIP11):c.2183G>A (p.Arg728Gln)	SRRD, TFIP11 (R728Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 34