Related gene-specific medical variations for Gene (Select 375611) - ClinVar - NCBI

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

Links from Gene

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3310973	NM_002803.4(PSMC2):c.1234G>T (p.Ala412Ser)	PSMC2, SLC26A5 (A412S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220401	NM_002803.4(PSMC2):c.187A>G (p.Thr63Ala)	PSMC2, SLC26A5 (T63A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220400	NM_002803.4(PSMC2):c.1031G>A (p.Ser344Asn)	PSMC2, SLC26A5 (S344N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2657888	NM_002803.4(PSMC2):c.1192A>C (p.Arg398=)	PSMC2, SLC26A5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2657887	NM_206883.3(SLC26A5):c.2042-10423T>C	PSMC2, SLC26A5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2572203	NM_002803.4(PSMC2):c.325C>T (p.Pro109Ser)	PSMC2, SLC26A5 (P109S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2538781	NM_002803.4(PSMC2):c.154A>T (p.Ile52Phe)	PSMC2, SLC26A5 (I52F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2436007	NM_198999.3(SLC26A5):c.1936T>C (p.Phe646Leu)	SLC26A5 (F614L +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive nonsyndromic hearing loss 61	GUncertain significance
Select item 2383562	NM_002803.4(PSMC2):c.119C>G (p.Thr40Ser)	PSMC2, SLC26A5 (T40S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274274	NM_002803.4(PSMC2):c.302T>C (p.Ile101Thr)	PSMC2, SLC26A5 (I101T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1807231	NM_198999.3(SLC26A5):c.790G>A (p.Val264Ile)	SLC26A5 (V264I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1311746	NM_206883.3(SLC26A5):c.2042-9101dup	PSMC2, SLC26A5 (V122fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 994773	NM_198999.3(SLC26A5):c.28C>T (p.Leu10Phe)	SLC26A5 (L10F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 992332	NM_002803.4(PSMC2):c.751G>T (p.Gly251Cys)	PSMC2, SLC26A5 (G251C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 618880	NM_198999.3(SLC26A5):c.13G>C (p.Glu5Gln)	SLC26A5 (E5Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance