ClinVar for Gene (Select 115950) - ClinVar

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Links from Gene

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3259070	NM_138783.4(ZNF653):c.407G>A (p.Arg136His)	ZNF653 (R136H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259069	NM_138783.4(ZNF653):c.515C>T (p.Ser172Leu)	ZNF653 (S172L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259067	NM_138783.4(ZNF653):c.289G>T (p.Gly97Cys)	LOC130063581, ZNF653 (G97C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259066	NM_138783.4(ZNF653):c.494G>A (p.Arg165His)	ZNF653 (R165H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259065	NM_138783.4(ZNF653):c.1249G>A (p.Glu417Lys)	ZNF653 (E417K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197495	NM_138783.4(ZNF653):c.871G>A (p.Ala291Thr)	ZNF653 (A291T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3197494	NM_138783.4(ZNF653):c.695G>T (p.Gly232Val)	ZNF653 (G232V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197493	NM_138783.4(ZNF653):c.566A>G (p.Asn189Ser)	ZNF653 (N189S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197492	NM_138783.4(ZNF653):c.527C>T (p.Pro176Leu)	ZNF653 (P176L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197491	NM_138783.4(ZNF653):c.241G>A (p.Ala81Thr)	LOC130063581, ZNF653 (A81T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197490	NM_138783.4(ZNF653):c.1829C>T (p.Pro610Leu)	ZNF653 (P610L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197489	NM_138783.4(ZNF653):c.1828C>G (p.Pro610Ala)	ZNF653 (P610A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197488	NM_138783.4(ZNF653):c.1697G>A (p.Arg566Gln)	ZNF653 (R566Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197487	NM_138783.4(ZNF653):c.1198A>G (p.Lys400Glu)	ZNF653 (K400E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197486	NM_138783.4(ZNF653):c.1145C>T (p.Ala382Val)	ZNF653 (A382V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197485	NM_138783.4(ZNF653):c.113G>T (p.Arg38Leu)	LOC130063581, ZNF653 (R38L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197484	NM_138783.4(ZNF653):c.106C>G (p.Arg36Gly)	LOC130063581, ZNF653 (R36G)	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 2649332	NM_138783.4(ZNF653):c.751G>A (p.Val251Met)	ZNF653 (V251M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2649331	NM_138783.4(ZNF653):c.990C>G (p.Leu330=)	ZNF653	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2606069	NM_138783.4(ZNF653):c.763G>T (p.Ala255Ser)	ZNF653 (A255S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598612	NM_138783.4(ZNF653):c.689C>T (p.Pro230Leu)	ZNF653 (P230L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568689	NM_138783.4(ZNF653):c.58G>C (p.Gly20Arg)	LOC130063581, ZNF653 (G20R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552258	NM_138783.4(ZNF653):c.464C>T (p.Thr155Met)	ZNF653 (T155M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536600	NM_138783.4(ZNF653):c.19G>A (p.Glu7Lys)	LOC130063581, ZNF653 (E7K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532588	NM_138783.4(ZNF653):c.970G>A (p.Gly324Ser)	ZNF653 (G324S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524020	NM_138783.4(ZNF653):c.352C>T (p.Arg118Cys)	ZNF653 (R118C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516461	NM_138783.4(ZNF653):c.298G>T (p.Gly100Trp)	LOC130063581, ZNF653 (G100W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515958	NM_138783.4(ZNF653):c.1241C>T (p.Thr414Met)	ZNF653 (T414M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475780	NM_138783.4(ZNF653):c.595T>C (p.Ser199Pro)	ZNF653 (S199P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459648	NM_138783.4(ZNF653):c.22C>G (p.Pro8Ala)	LOC130063581, ZNF653 (P8A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455076	NM_138783.4(ZNF653):c.886G>A (p.Val296Met)	ZNF653 (V296M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2407684	NM_138783.4(ZNF653):c.1132A>G (p.Met378Val)	ZNF653 (M378V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398532	NM_138783.4(ZNF653):c.703G>A (p.Gly235Arg)	ZNF653 (G235R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393103	NM_138783.4(ZNF653):c.742G>A (p.Val248Ile)	ZNF653 (V248I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392213	NM_138783.4(ZNF653):c.449T>C (p.Phe150Ser)	ZNF653 (F150S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391811	NM_138783.4(ZNF653):c.1768C>T (p.Arg590Cys)	ZNF653 (R590C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389630	NM_138783.4(ZNF653):c.11G>T (p.Arg4Leu)	LOC130063581, ZNF653 (R4L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383617	NM_138783.4(ZNF653):c.1207A>G (p.Lys403Glu)	ZNF653 (K403E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366806	NM_138783.4(ZNF653):c.335G>A (p.Arg112Gln)	ZNF653 (R112Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344732	NM_138783.4(ZNF653):c.19G>C (p.Glu7Gln)	LOC130063581, ZNF653 (E7Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326799	NM_138783.4(ZNF653):c.1487A>G (p.Lys496Arg)	ZNF653 (K496R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317613	NM_138783.4(ZNF653):c.1744G>A (p.Val582Met)	ZNF653 (V582M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316883	NM_138783.4(ZNF653):c.322A>C (p.Lys108Gln)	ZNF653 (K108Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315083	NM_138783.4(ZNF653):c.1844C>G (p.Thr615Ser)	ZNF653 (T615S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312001	NM_138783.4(ZNF653):c.40G>A (p.Ala14Thr)	LOC130063581, ZNF653 (A14T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308818	NM_138783.4(ZNF653):c.1828C>T (p.Pro610Ser)	ZNF653 (P610S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308785	NM_138783.4(ZNF653):c.284G>A (p.Arg95Gln)	LOC130063581, ZNF653 (R95Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302358	NM_138783.4(ZNF653):c.1187G>A (p.Cys396Tyr)	ZNF653 (C396Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2287799	NM_138783.4(ZNF653):c.469G>C (p.Val157Leu)	ZNF653 (V157L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218958	NM_138783.4(ZNF653):c.1367G>A (p.Arg456Gln)	ZNF653 (R456Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208974	NM_138783.4(ZNF653):c.1836C>G (p.His612Gln)	ZNF653 (H612Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1340718	GRCh37/hg19 19p13.2(chr19:9941033-11739567)x3	ACP5, ANGPTL6 +59 more	Copy number gain	not provided	GUncertain significance
Select item 983187	GRCh37/hg19 19p13.2(chr19:10957601-11672041)x1	ANGPTL8, C19orf38 +22 more	Copy number loss	See cases	GPathogenic
Select item 972927	GRCh37/hg19 19p13.2(chr19:10642984-12810067)	ZNF653, ZNF69 +63 more	Copy number loss	not provided	Gnot provided
Select item 816066	GRCh37/hg19 19p13.2(chr19:11445773-12160664)x3	ELOF1, EPOR +23 more	Copy number gain	not provided	GUncertain significance
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 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 60235	GRCh38/hg38 19p13.2(chr19:11138895-11549951)x3	ANGPTL8, CCDC159 +52 more	Copy number gain	See cases	GUncertain significance
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 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic

ClinVar

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Links from Gene

Items: 68