Related gene-specific medical variations for Gene (Select 80031) - 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 3159914	NM_001358351.3(SEMA6D):c.1417A>C (p.Asn473His)	LOC126862120, SEMA6D (N473H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048294	NM_001358351.3(SEMA6D):c.1119C>T (p.His373=)	LOC126862120, SEMA6D	Single nucleotide variant (synonymous variant)	SEMA6D-related condition	GLikely benign
Select item 3034693	NM_001358351.3(SEMA6D):c.1266G>A (p.Thr422=)	LOC126862120, SEMA6D	Single nucleotide variant (synonymous variant)	SEMA6D-related condition	GLikely benign
Select item 2672292	NM_001358351.3(SEMA6D):c.1028G>T (p.Arg343Leu)	SEMA6D (R343L)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2672126	NM_001358351.3(SEMA6D):c.2673_2676dup (p.Pro893Ter)	SEMA6D (P818* +4 more)	Duplication (nonsense +1 more)	not provided	GUncertain significance
Select item 2552666	NM_001358351.3(SEMA6D):c.1243A>G (p.Thr415Ala)	LOC126862120, SEMA6D (T415A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539621	NM_001358351.3(SEMA6D):c.1291G>A (p.Gly431Arg)	LOC126862120, SEMA6D (G431R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528588	NM_001358351.3(SEMA6D):c.1315A>G (p.Ile439Val)	LOC126862120, SEMA6D (I439V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326900	NM_001358351.3(SEMA6D):c.1199A>T (p.Asp400Val)	LOC126862120, SEMA6D (D400V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219292	NM_001358351.3(SEMA6D):c.1390G>A (p.Val464Ile)	LOC126862120, SEMA6D (V464I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 980036	GRCh37/hg19 15q21.1(chr15:47395971-47672312)x3	SEMA6D	Copy number gain	not provided	GUncertain significance
Select item 980035	GRCh37/hg19 15q21.1(chr15:46527065-47689553)x3	SEMA6D	Copy number gain	not provided	GUncertain significance
Select item 688848	GRCh37/hg19 15q21.1(chr15:47457188-47957391)x1	SEMA6D	Copy number loss	not provided	GUncertain significance
Select item 564200	GRCh37/hg19 15q21.1(chr15:47227059-47719054)x1	SEMA6D	Copy number loss	not provided	GLikely benign
Select item 451137	NM_001358351.3(SEMA6D):c.1286C>T (p.Ser429Leu)	LOC126862120, SEMA6D (S429L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance