SNRK-AS1[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2615915	NM_017719.5(SNRK):c.1270C>T (p.Leu424Phe)	SNRK, SNRK-AS1 (L218F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2280823	NM_017719.5(SNRK):c.1399T>G (p.Leu467Val)	SNRK, SNRK-AS1 (L467V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2300987	NM_017719.5(SNRK):c.1400T>G (p.Leu467Trp)	SNRK, SNRK-AS1 (L261W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 791920	NM_017719.5(SNRK):c.1488C>T (p.Asp496=)	SNRK, SNRK-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3166995	NM_017719.5(SNRK):c.1568A>C (p.His523Pro)	SNRK, SNRK-AS1 (H317P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3166996	NM_017719.5(SNRK):c.1573C>T (p.Arg525Cys)	SNRK, SNRK-AS1 (R525C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2314075	NM_017719.5(SNRK):c.1657C>T (p.Arg553Trp)	SNRK, SNRK-AS1 (R553W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1334588	NM_017719.5(SNRK):c.1745G>A (p.Gly582Asp)	SNRK, SNRK-AS1 (G376D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 791921	NM_017719.5(SNRK):c.1758A>G (p.Pro586=)	SNRK, SNRK-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2412045	NM_017719.5(SNRK):c.1831G>A (p.Gly611Ser)	SNRK, SNRK-AS1 (G405S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2479932	NM_017719.5(SNRK):c.1871G>A (p.Arg624His)	SNRK, SNRK-AS1 (R624H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2304372	NM_017719.5(SNRK):c.1873C>T (p.Arg625Cys)	SNRK, SNRK-AS1 (R419C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2495029	NM_017719.5(SNRK):c.1897A>G (p.Met633Val)	SNRK, SNRK-AS1 (M427V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2296230	NM_017719.5(SNRK):c.1924G>A (p.Glu642Lys)	SNRK, SNRK-AS1 (E642K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3166997	NM_017719.5(SNRK):c.1948A>G (p.Met650Val)	SNRK, SNRK-AS1 (M444V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2272171	NM_017719.5(SNRK):c.1963G>A (p.Gly655Ser)	SNRK, SNRK-AS1 (G449S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3166999	NM_017719.5(SNRK):c.1966T>G (p.Ser656Ala)	SNRK, SNRK-AS1 (S656A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2521314	NM_017719.5(SNRK):c.2028T>G (p.Ser676Arg)	SNRK, SNRK-AS1 (S470R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2203790	NM_017719.5(SNRK):c.2063G>C (p.Cys688Ser)	SNRK, SNRK-AS1 (C688S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2555200	NM_017719.5(SNRK):c.2155G>A (p.Glu719Lys)	SNRK, SNRK-AS1 (E719K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3167000	NM_017719.5(SNRK):c.2159G>A (p.Arg720Gln)	SNRK, SNRK-AS1 (R720Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2237663	NM_017719.5(SNRK):c.2171A>G (p.Lys724Arg)	SNRK, SNRK-AS1 (K518R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2221561	NM_017719.5(SNRK):c.2183A>G (p.Asn728Ser)	SNRK, SNRK-AS1 (N522S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2518834	NM_017719.5(SNRK):c.2227A>G (p.Asn743Asp)	SNRK, SNRK-AS1 (N743D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance

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Items: 24