Related gene-specific medical variations for Gene (Select 191) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3130390	NM_001672.3(ASIP):c.297C>G (p.Ser99Arg)	AHCY, ASIP (S99R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130389	NM_001672.3(ASIP):c.185T>A (p.Ile62Asn)	AHCY, ASIP (I62N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130388	NM_001672.3(ASIP):c.116A>T (p.Asn39Ile)	AHCY, ASIP (N39I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2438932	NM_000687.4(AHCY):c.151G>T (p.Ala51Ser)	AHCY (A23S +2 more)	Single nucleotide variant (missense variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GUncertain significance
Select item 2438931	NM_000687.4(AHCY):c.697C>T (p.Arg233Trp)	AHCY (R205W +2 more)	Single nucleotide variant (missense variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GUncertain significance
Select item 2438930	NM_000687.4(AHCY):c.781A>G (p.Thr261Ala)	AHCY (T233A +2 more)	Single nucleotide variant (missense variant)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GUncertain significance
Select item 2374309	NM_001672.3(ASIP):c.134T>C (p.Leu45Pro)	AHCY, ASIP (L45P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334266	NM_001672.3(ASIP):c.223A>G (p.Lys75Glu)	AHCY, ASIP (K75E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242405	NM_001672.3(ASIP):c.124G>T (p.Val42Leu)	AHCY, ASIP (V42L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230217	NM_001672.3(ASIP):c.181C>A (p.Gln61Lys)	AHCY, ASIP (Q61K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 775119	NM_001672.3(ASIP):c.264C>A (p.Pro88=)	AHCY, ASIP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 9308	NM_001672.3(ASIP):c.*25A>G	AHCY, ASIP	Single nucleotide variant (3 prime UTR variant)	SKIN/HAIR/EYE PIGMENTATION 9, DARK/LIGHT HAIR	Gassociation