7695[Gene ID] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 more	Copy number loss	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 60073	GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1	ACP5, BEST2 +261 more	Copy number loss	See cases	GPathogenic
Select item 147761	GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	LOC112543445, LOC112543446 +355 more	Copy number loss	See cases	GPathogenic
Select item 59112	GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	LOC129391074, LOC130063625 +351 more	Copy number gain	See cases	GPathogenic
Select item 3334943	NM_003437.5(ZNF136):c.8C>T (p.Ser3Leu)	ZNF136 (S3L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2482586	NM_003437.5(ZNF136):c.19G>A (p.Glu7Lys)	ZNF136 (E7K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2545192	NM_003437.5(ZNF136):c.55G>T (p.Ala19Ser)	ZNF136 (A19S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3334941	NM_003437.5(ZNF136):c.71C>T (p.Ser24Phe)	ZNF136 (S24F)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2286660	NM_003437.5(ZNF136):c.125C>G (p.Ser42Cys)	ZNF136 (S10C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194022	NM_003437.5(ZNF136):c.127A>G (p.Ile43Val)	ZNF136 (I11V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334948	NM_003437.5(ZNF136):c.133A>G (p.Lys45Glu)	ZNF136 (K45E +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2326005	NM_003437.5(ZNF136):c.136A>G (p.Lys46Glu)	ZNF136 (K14E +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2379643	NM_003437.5(ZNF136):c.176G>A (p.Arg59Gln)	ZNF136 (R59Q +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2384719	NM_003437.5(ZNF136):c.199A>G (p.Met67Val)	ZNF136 (M35V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194023	NM_003437.5(ZNF136):c.265A>C (p.Asn89His)	ZNF136 (N57H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398178	NM_003437.5(ZNF136):c.300A>C (p.Lys100Asn)	ZNF136 (K68N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259979	NM_003437.5(ZNF136):c.368A>G (p.Asp123Gly)	ZNF136 (D123G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240304	NM_003437.5(ZNF136):c.377G>T (p.Gly126Val)	ZNF136 (G126V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334946	NM_003437.5(ZNF136):c.409G>C (p.Glu137Gln)	ZNF136 (E137Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522973	NM_003437.5(ZNF136):c.499C>T (p.Leu167Phe)	ZNF136 (L101F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194024	NM_003437.5(ZNF136):c.557A>G (p.His186Arg)	ZNF136 (H120R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194025	NM_003437.5(ZNF136):c.671A>G (p.Tyr224Cys)	ZNF136 (Y224C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280657	NM_003437.5(ZNF136):c.701C>G (p.Thr234Ser)	ZNF136 (T168S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481257	NM_003437.5(ZNF136):c.719G>A (p.Arg240Gln)	ZNF136 (R240Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610293	NM_003437.5(ZNF136):c.843A>C (p.Lys281Asn)	ZNF136 (K249N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161614	NM_003437.5(ZNF136):c.883T>G (p.Leu295Val)	ZNF136 (L295V +2 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 3194026	NM_003437.5(ZNF136):c.961C>T (p.Pro321Ser)	ZNF136 (P321S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245206	NM_003437.5(ZNF136):c.973C>G (p.Leu325Val)	ZNF136 (L259V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353514	NM_003437.5(ZNF136):c.1004C>T (p.Pro335Leu)	ZNF136 (P303L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245205	NM_003437.5(ZNF136):c.1046G>T (p.Ser349Ile)	ZNF136 (S349I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494113	NM_003437.5(ZNF136):c.1062T>G (p.His354Gln)	ZNF136 (H354Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471515	NM_003437.5(ZNF136):c.1105T>G (p.Cys369Gly)	ZNF136 (C303G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318424	NM_003437.5(ZNF136):c.1133G>C (p.Ser378Thr)	ZNF136 (S378T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538752	NM_003437.5(ZNF136):c.1136T>C (p.Met379Thr)	ZNF136 (M313T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194021	NM_003437.5(ZNF136):c.1138C>G (p.Arg380Gly)	ZNF136 (R380G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291367	NM_003437.5(ZNF136):c.1148T>C (p.Met383Thr)	ZNF136 (M351T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334945	NM_003437.5(ZNF136):c.1238C>G (p.Thr413Ser)	ZNF136 (T347S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252902	NM_003437.5(ZNF136):c.1269A>C (p.Lys423Asn)	ZNF136 (K423N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235437	NM_003437.5(ZNF136):c.1276G>A (p.Gly426Ser)	ZNF136 (G360S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223106	NM_003437.5(ZNF136):c.1322C>G (p.Thr441Ser)	ZNF136 (T375S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610175	NM_003437.5(ZNF136):c.1391G>A (p.Arg464Gln)	ZNF136 (R432Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334947	NM_003437.5(ZNF136):c.1488G>C (p.Arg496Ser)	ZNF136 (R430S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604273	NM_003437.5(ZNF136):c.1490C>G (p.Thr497Ser)	ZNF136 (T465S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334944	NM_003437.5(ZNF136):c.1508C>G (p.Pro503Arg)	ZNF136 (P471R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334942	NM_003437.5(ZNF136):c.1546C>T (p.Arg516Cys)	ZNF136 (R516C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062391	GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1	MIR199A1, ODAD3 +87 more	Copy number loss	not specified	GPathogenic
Select item 2684885	GRCh37/hg19 19p13.2(chr19:12281048-13573342)x3	BEST2, CACNA1A +39 more	Copy number gain	not provided	GLikely pathogenic
Select item 2423817	NC_000019.9:g.(?_11277234)_(13249220_?)dup	ACP5, ANGPTL8 +68 more	Duplication	not provided	GUncertain significance
Select item 2422498	NC_000019.9:g.(?_10828919)_(13482613_?)dup	ACP5, ANGPTL8 +81 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate B +4 more	GUncertain significance
Select item 972927	GRCh37/hg19 19p13.2(chr19:10642984-12810067)	ZNF653, ZNF69 +63 more	Copy number loss	not provided	Gnot provided
Select item 684477	Single allele	ACP5, ANGPTL8 +63 more	Deletion	not provided	Gnot provided
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443220	GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3	ACP5, ADGRE5 +82 more	Copy number gain	See cases	GUncertain significance
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic
Select item 395272	GRCh37/hg19 19p13.2(chr19:12204632-13497073)x1	BEST2, CACNA1A +41 more	Copy number loss	See cases	GPathogenic

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Items: 59