Related gene-specific medical variations for Gene (Select 126862913) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315571	NM_030785.4(RSPH6A):c.809A>G (p.Lys270Arg)	LOC126862913, RSPH6A (K270R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156740	NM_030785.4(RSPH6A):c.874A>G (p.Met292Val)	LOC126862913, RSPH6A (M292V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156739	NM_030785.4(RSPH6A):c.868C>A (p.Gln290Lys)	LOC126862913, RSPH6A (Q290K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514500	NM_030785.4(RSPH6A):c.853G>A (p.Gly285Ser)	LOC126862913, RSPH6A (G285S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365515	NM_030785.4(RSPH6A):c.841C>T (p.Arg281Trp)	LOC126862913, RSPH6A (R281W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330398	NM_030785.4(RSPH6A):c.680A>G (p.Lys227Arg)	LOC126862913, RSPH6A (K227R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232433	NM_030785.4(RSPH6A):c.813G>T (p.Met271Ile)	LOC126862913, RSPH6A (M271I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar