ClinVar for Gene (Select 1797) - ClinVar

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Links from Gene

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3274130	NM_005510.4(DXO):c.320T>G (p.Leu107Arg)	DXO, STK19 (L107R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3274129	NM_005510.4(DXO):c.402C>A (p.His134Gln)	DXO (H134Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3274128	NM_005510.4(DXO):c.1022C>T (p.Thr341Met)	DXO (T157M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086413	NM_005510.4(DXO):c.554T>C (p.Met185Thr)	DXO (M1T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086412	NM_005510.4(DXO):c.530G>A (p.Arg177Gln)	DXO (R177Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3086411	NM_005510.4(DXO):c.500C>T (p.Thr167Ile)	DXO (T167I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3086409	NM_005510.4(DXO):c.1139A>C (p.Glu380Ala)	DXO (E380A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656433	NM_004197.1(STK19):c.125C>T (p.Ala42Val)	DXO, STK19 (A42V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2622804	NM_005510.4(DXO):c.434G>A (p.Arg145Gln)	DXO (R145Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2543547	NM_005510.4(DXO):c.503C>T (p.Pro168Leu)	DXO (P168L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2507589	NM_005510.4(DXO):c.956G>A (p.Arg319His)	DXO (R135H +2 more)	Single nucleotide variant (missense variant)	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 2466660	NM_005510.4(DXO):c.450G>C (p.Gln150His)	DXO (Q150H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2463995	NM_005510.4(DXO):c.902C>T (p.Ser301Phe)	DXO (S117F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2407125	NM_005510.4(DXO):c.661C>T (p.Arg221Cys)	DXO (R37C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371526	NM_005510.4(DXO):c.767C>T (p.Thr256Ile)	DXO (T256I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343026	NM_005510.4(DXO):c.529C>T (p.Arg177Trp)	DXO (R177W)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2317880	NM_005510.4(DXO):c.1081G>C (p.Val361Leu)	DXO (V291L +2 more)	Single nucleotide variant (missense variant)	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 2259059	NM_005510.4(DXO):c.1045C>T (p.Leu349Phe)	DXO (L165F +2 more)	Single nucleotide variant (missense variant)	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 2213639	NM_032454.1(STK19):c.112G>A (p.Val38Met)	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)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 403445	NC_000006.12:g.31970674T>C	DXO, SKIC2	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 403444	NC_000006.12:g.31970635G>T	DXO, SKIC2 (H261Q +1 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 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

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Links from Gene

Items: 34