Related gene-specific medical variations for Gene (Select 29901) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315978	NM_013299.4(SAC3D1):c.505T>C (p.Tyr169His)	LOC130005986, SAC3D1 (Y169H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157459	NM_013299.4(SAC3D1):c.440G>A (p.Gly147Glu)	LOC130005986, SAC3D1 (G147E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157458	NM_013299.4(SAC3D1):c.361G>A (p.Glu121Lys)	LOC130005986, SAC3D1 (E121K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157457	NM_013299.4(SAC3D1):c.355G>A (p.Asp119Asn)	LOC130005986, SAC3D1 (D119N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157456	NM_013299.4(SAC3D1):c.299T>G (p.Phe100Cys)	LOC130005986, SAC3D1 (F100C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157455	NM_013299.4(SAC3D1):c.284C>T (p.Ala95Val)	LOC130005986, SAC3D1 (A95V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598134	NM_013299.4(SAC3D1):c.553C>T (p.Leu185Phe)	LOC130005987, SAC3D1 (L185F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555193	NM_013299.4(SAC3D1):c.566A>G (p.Tyr189Cys)	LOC130005987, SAC3D1 (Y189C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486438	NM_013299.4(SAC3D1):c.565T>A (p.Tyr189Asn)	LOC130005987, SAC3D1 (Y189N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477468	NM_013299.4(SAC3D1):c.514G>A (p.Gly172Ser)	LOC130005986, SAC3D1 (G172S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2383975	NM_013299.4(SAC3D1):c.61G>C (p.Ala21Pro)	LOC130005986, SAC3D1 (A21P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352769	NM_013299.4(SAC3D1):c.277G>T (p.Ala93Ser)	LOC130005986, SAC3D1 (A93S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2350857	NM_013299.4(SAC3D1):c.370G>A (p.Val124Met)	LOC130005986, SAC3D1 (V124M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance