ClinVar for Gene (Select 54861) - ClinVar

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Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3321193	NM_017719.5(SNRK):c.2257C>A (p.Leu753Met)	SNRK, SNRK-AS1 (L753M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3321192	NM_017719.5(SNRK):c.676A>G (p.Met226Val)	SNRK (M226V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167001	NM_017719.5(SNRK):c.56A>G (p.Asp19Gly)	SNRK (D19G)	Single nucleotide variant (missense 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 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 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 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 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 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 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 2546725	NM_017719.5(SNRK):c.311T>C (p.Ile104Thr)	SNRK (I104T)	Single nucleotide variant (missense 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 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
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 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 2477078	NM_017719.5(SNRK):c.755G>A (p.Arg252Lys)	SNRK (R46K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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 2299514	NM_017719.5(SNRK):c.928C>G (p.Arg310Gly)	SNRK (R104G +1 more)	Single nucleotide variant (missense variant)	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 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 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 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 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 1527014	GRCh37/hg19 3p22.1(chr3:42984620-43656876)	ANO10, GASK1A +2 more	Copy number gain	not specified	GUncertain significance
Select item 1441558	NC_000003.11:g.(?_40924962)_(43760024_?)dup	ABHD5, ACKR2 +22 more	Duplication	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	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 980513	GRCh37/hg19 3p22.1-21.33(chr3:43230722-43933855)x1	ABHD5, SNRK +1 more	Copy number loss	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 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 791919	NM_017719.5(SNRK):c.738C>T (p.Ile246=)	SNRK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 791918	NM_017719.5(SNRK):c.45A>G (p.Leu15=)	SNRK	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 775863	NM_017719.5(SNRK):c.412A>C (p.Arg138=)	SNRK	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 775862	NM_017719.5(SNRK):c.21G>T (p.Gly7=)	SNRK	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 686763	GRCh37/hg19 3p22.1(chr3:43314197-43376103)x3	SNRK	Copy number gain	not provided	GUncertain significance
Select item 562760	GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	ABHD5, ACAA1 +135 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253640	GRCh37/hg19 3p22.1-21.31(chr3:41104508-44636698)x1	HHATL, ZKSCAN7 +29 more	Copy number loss	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic

ClinVar

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Links from Gene

Items: 43