Related gene-specific medical variations for Gene (Select 85477) - ClinVar - NCBI

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

Links from Gene

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3316477	NM_001112706.3(SCIN):c.1529C>A (p.Thr510Lys)	LOC123924904, SCIN (T510K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158430	NM_001112706.3(SCIN):c.1564A>G (p.Ile522Val)	LOC123924904, SCIN (I522V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158429	NM_001112706.3(SCIN):c.1534C>G (p.Leu512Val)	LOC123924904, SCIN (L265V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158428	NM_001112706.3(SCIN):c.1525C>A (p.Pro509Thr)	LOC123924904, SCIN (P509T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158427	NM_001112706.3(SCIN):c.1523C>T (p.Pro508Leu)	LOC123924904, SCIN (P508L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158426	NM_001112706.3(SCIN):c.1520C>T (p.Ala507Val)	LOC123924904, SCIN (A260V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555288	NM_001112706.3(SCIN):c.1438G>A (p.Val480Ile)	LOC123924904, SCIN (V233I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2549407	NM_001112706.3(SCIN):c.1571G>A (p.Arg524Lys)	LOC123924904, SCIN (R277K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402190	NM_001112706.3(SCIN):c.1522C>T (p.Pro508Ser)	LOC123924904, SCIN (P261S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396661	NM_001112706.3(SCIN):c.1487A>G (p.Asn496Ser)	LOC123924904, SCIN (N249S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328343	NM_001112706.3(SCIN):c.1430A>G (p.Lys477Arg)	LOC123924904, SCIN (K230R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1340671	GRCh37/hg19 7p21.3(chr7:12543160-12619740)x1	SCIN	Copy number loss	not provided	GLikely benign
Select item 980252	GRCh37/hg19 7p21.3(chr7:12547655-12618764)x1	SCIN	Copy number loss	not provided	GLikely benign