Related gene-specific medical variations for Gene (Select 951) - 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 3264830	NM_001774.3(CD37):c.698G>A (p.Gly233Asp)	CD37, SLC6A16 (G165D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264829	NM_001774.3(CD37):c.299C>T (p.Thr100Ile)	CD37, SLC6A16 (T100I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264828	NM_001774.3(CD37):c.130G>A (p.Val44Met)	CD37, SLC6A16 (V44M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3140576	NM_001774.3(CD37):c.841C>T (p.Arg281Cys)	CD37, SLC6A16 (R213C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140575	NM_001774.3(CD37):c.367G>T (p.Val123Leu)	CD37, SLC6A16 (V55L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480435	NM_001774.3(CD37):c.173C>A (p.Ser58Tyr)	CD37, SLC6A16 (S58Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2477445	NM_001774.3(CD37):c.638G>A (p.Ser213Asn)	CD37, SLC6A16 (S213N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2407916	NM_001774.3(CD37):c.740G>T (p.Gly247Val)	CD37, SLC6A16 (G247V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389806	NM_001774.3(CD37):c.825C>A (p.Asn275Lys)	CD37, SLC6A16 (N275K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274644	NM_001774.3(CD37):c.508A>G (p.Asn170Asp)	CD37, SLC6A16 (N102D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789460	NM_001774.3(CD37):c.132G>C (p.Val44=)	CD37, SLC6A16	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 736419	NM_001774.3(CD37):c.364G>A (p.Val122Ile)	CD37, SLC6A16 (V54I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 714892	NM_001774.3(CD37):c.685-7C>T	CD37, SLC6A16	Single nucleotide variant (intron variant)	not provided	GBenign