ClinVar for Gene (Select 8859) - ClinVar

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Links from Gene

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3171302	NM_004197.2(STK19):c.286G>A (p.Asp96Asn)	STK19 (D96N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171301	NM_004197.2(STK19):c.271G>A (p.Val91Ile)	STK19 (V158I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3171300	NM_004197.2(STK19):c.107C>T (p.Ala36Val)	STK19 (A103V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171299	NM_004197.2(STK19):c.106G>T (p.Ala36Ser)	STK19 (A103S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171298	NM_004197.2(STK19):c.83C>T (p.Pro28Leu)	STK19 (P138L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171296	NM_004197.2(STK19):c.81T>G (p.Asp27Glu)	STK19 (D137E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171295	NM_004197.2(STK19):c.4A>G (p.Ser2Gly)	STK19 (S112G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171294	NM_004197.2(STK19):c.-30C>G	STK19 (P58A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3171293	NM_032454.1(STK19):c.166T>G (p.Trp56Gly)	STK19 (W56G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2656433	NM_005510.4(DXO):c.-199G>A	DXO, STK19 (A42V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2615402	NM_004197.2(STK19):c.323A>G (p.Tyr108Cys)	STK19 (Y218C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590748	NM_004197.2(STK19):c.356G>A (p.Arg119Gln)	STK19 (R186Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553553	NM_004197.2(STK19):c.397C>T (p.Leu133Phe)	STK19 (L133F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490314	NM_004197.2(STK19):c.104C>G (p.Ser35Trp)	STK19 (S35W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478859	NM_005510.4(DXO):c.236G>A (p.Gly79Asp)	DXO, STK19 (G79D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2476615	NM_005510.4(DXO):c.308T>C (p.Leu103Pro)	DXO, STK19 (L103P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2466032	NM_004197.2(STK19):c.646C>T (p.Arg216Trp)	STK19 (R216W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462463	NM_004197.2(STK19):c.-3G>A	STK19 (D67N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	KIFC1, LEMD2 +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2404144	NM_004197.2(STK19):c.614G>A (p.Arg205Gln)	STK19 (R272Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379122	NM_004197.2(STK19):c.438G>A (p.Met146Ile)	STK19 (M213I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347892	NM_004197.2(STK19):c.343G>T (p.Ala115Ser)	STK19 (A229S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344536	NM_004197.2(STK19):c.698T>C (p.Ile233Thr)	STK19 (I300T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304956	NM_005510.4(DXO):c.59A>G (p.Asn20Ser)	DXO, STK19 (N20S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2285385	NM_005510.4(DXO):c.191C>A (p.Ala64Asp)	DXO, STK19 (A64D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2283808	NM_004197.2(STK19):c.-5G>T	STK19 (R109L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2263166	NM_032454.1(STK19):c.238A>T (p.Thr80Ser)	STK19 (T37S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233321	NM_004197.2(STK19):c.317A>G (p.Glu106Gly)	STK19 (E106G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227053	NM_004197.2(STK19):c.665G>A (p.Arg222Gln)	STK19 (R222Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217220	NM_005510.4(DXO):c.165T>G (p.Asp55Glu)	DXO, STK19 (D55E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2214408	NM_004197.2(STK19):c.38T>C (p.Phe13Ser)	STK19 (F80S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213639	NM_005510.4(DXO):c.-186C>T	DXO, STK19 (V38M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 814808	GRCh37/hg19 6p21.33-21.32(chr6:31916915-32278000)x3	AGER, AGPAT1 +19 more	Copy number gain	not provided	GUncertain significance
Select item 814807	GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3	ABHD16A, AGER +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	AARS2, ABCC10 +2577 more	Copy number gain	See cases	GPathogenic
Select item 153079	GRCh38/hg38 6p21.33(chr6:31971993-32012974)x1	C4A, DXO +3 more	Copy number loss	See cases	GBenign
Select item 152997	GRCh38/hg38 6p21.33(chr6:31980422-32041505)x1	C4A, C4B +7 more	Copy number loss	See cases	GBenign
Select item 150716	GRCh38/hg38 6p21.33(chr6:31980353-32041234)x3	C4A, C4B +7 more	Copy number gain	See cases	GLikely benign
Select item 76320	NM_004197.1(STK19):c.265G>A (p.Asp89Asn)	STK19 (D89N +1 more)	Single nucleotide variant (missense variant +1 more)	Malignant melanoma of skin +1 more	GLikely pathogenic

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Links from Gene

Items: 42