Related gene-specific medical variations for Gene (Select 402055) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3238993	NM_001013694.3(SRRD):c.150C>T (p.Gly50=)	LOC130067148, SRRD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3170082	NM_001013694.3(SRRD):c.10G>C (p.Ala4Pro)	LOC130067147, SRRD (A4P)	Single nucleotide variant (missense variant)	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
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 2460526	NM_001013694.3(SRRD):c.140C>T (p.Ala47Val)	LOC130067148, SRRD (A47V)	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 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 2385785	NM_001013694.3(SRRD):c.116C>T (p.Ala39Val)	LOC130067148, SRRD (A39V)	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 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 2306635	NM_001013694.3(SRRD):c.36G>C (p.Trp12Cys)	LOC130067147, SRRD (W12C)	Single nucleotide variant (missense variant)	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 2303425	NM_001013694.3(SRRD):c.56A>G (p.Lys19Arg)	LOC130067147, SRRD (K19R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 402950	NC_000022.11:g.26483998GAGAGAGGCGGCGCCCCGGGG[1]	HPS4, LOC130067148 +1 more	Microsatellite	not specified	GBenign