Related gene-specific medical variations for Gene (Select 80201) - ClinVar

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Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3284432	NM_025130.4(HKDC1):c.134C>T (p.Ala45Val)	HKDC1, LOC101928994 (A45V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284426	NM_025130.4(HKDC1):c.88C>T (p.Arg30Trp)	HKDC1, LOC101928994 (R30W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068150	NM_025130.4(HKDC1):c.361G>A (p.Gly121Arg)	HKDC1, LOC126860950 (G121R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 92	GUncertain significance
Select item 3065578	NM_025130.4(HKDC1):c.250G>A (p.Asp84Asn)	HKDC1, LOC126860950 (D84N)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 92	GLikely pathogenic
Select item 3065416	NM_025130.4(HKDC1):c.1250A>G (p.Tyr417Cys)	HKDC1 (Y417C)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 92	GLikely pathogenic
Select item 2640544	NM_025130.4(HKDC1):c.126G>T (p.Arg42=)	HKDC1, LOC101928994	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2412026	NM_025130.4(HKDC1):c.281A>C (p.Lys94Thr)	HKDC1, LOC126860950 (K94T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369899	NM_025130.4(HKDC1):c.358C>T (p.Arg120Cys)	HKDC1, LOC126860950 (R120C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363584	NM_025130.4(HKDC1):c.324G>C (p.Glu108Asp)	HKDC1, LOC126860950 (E108D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363391	NM_025130.4(HKDC1):c.130C>T (p.Arg44Trp)	HKDC1, LOC101928994 (R44W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338592	NM_025130.4(HKDC1):c.301G>C (p.Gly101Arg)	HKDC1, LOC126860950 (G101R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320012	NM_025130.4(HKDC1):c.326G>A (p.Ser109Asn)	HKDC1, LOC126860950 (S109N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316720	NM_025130.4(HKDC1):c.124C>T (p.Arg42Trp)	HKDC1, LOC101928994 (R42W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282731	NM_025130.4(HKDC1):c.202G>A (p.Val68Ile)	HKDC1, LOC101928994 (V68I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250845	NM_025130.4(HKDC1):c.359G>A (p.Arg120His)	HKDC1, LOC126860950 (R120H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212310	NM_025130.4(HKDC1):c.328C>G (p.Gln110Glu)	HKDC1, LOC126860950 (Q110E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1321242	NM_025130.4(HKDC1):c.173C>T (p.Thr58Met)	HKDC1, LOC101928994 (T58M)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 92	GPathogenic
Select item 709947	NM_025130.4(HKDC1):c.197C>T (p.Thr66Ile)	HKDC1, LOC101928994 (T66I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 599516	NM_025130.4(HKDC1):c.1009C>T (p.Arg337Trp)	HKDC1 (R337W)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 599515	NM_025130.4(HKDC1):c.301G>T (p.Gly101Trp)	HKDC1, LOC126860950 (G101W)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic

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Links from Gene

Items: 20