"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "NHSL2"[gen - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2660896	NM_001405151.1(RTL5):c.1654C>T (p.Arg552Cys)	NHSL2, RTL5 (R552C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1206127	NM_001405151.1(RTL5):c.1600C>T (p.Arg534Cys)	NHSL2, RTL5 (R534C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2660897	NM_001405151.1(RTL5):c.754G>A (p.Gly252Ser)	NHSL2, RTL5 (G252S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2660898	NM_001405151.1(RTL5):c.186C>G (p.Pro62=)	NHSL2, RTL5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2660899	NM_001013627.3(NHSL2):c.651C>T (p.Ala217=)	NHSL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660900	NM_001013627.3(NHSL2):c.1056G>A (p.Pro352=)	NHSL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660901	NM_001013627.3(NHSL2):c.2646A>C (p.Pro882=)	NHSL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660902	NM_001013627.3(NHSL2):c.2774G>A (p.Arg925Gln)	NHSL2 (R925Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2660903	NM_001013627.3(NHSL2):c.3085C>G (p.Pro1029Ala)	NHSL2 (P1029A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2660904	NM_001013627.3(NHSL2):c.3246C>A (p.Thr1082=)	NHSL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660905	NM_001013627.3(NHSL2):c.3657C>T (p.Thr1219=)	NHSL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	ALG13, AMMECR1 +488 more	Copy number gain	not provided	GPathogenic
Select item 425520	GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	AWAT2, BCLAF3 +568 more	Copy number gain	not provided	GUncertain significance