ClinVar for Gene (Select 51548) - ClinVar

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Links from Gene

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062389	GRCh37/hg19 19p13.3(chr19:3788725-4881494)x1	EBI3, EEF2 +30 more	Copy number loss	not specified	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	UBXN6, UHRF1 +202 more	Copy number gain	not provided	GPathogenic
Select item 2649030	NM_016539.4(SIRT6):c.72C>T (p.Phe24=)	SIRT6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2620083	NM_016539.4(SIRT6):c.785T>A (p.Met262Lys)	SIRT6 (M190K +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2592070	NM_016539.4(SIRT6):c.601G>A (p.Asp201Asn)	SIRT6 (D140N +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2569610	NM_016539.4(SIRT6):c.778G>A (p.Glu260Lys)	SIRT6 (E161K +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2548565	NM_016539.4(SIRT6):c.791G>A (p.Arg264Gln)	SIRT6 (R129Q +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2547070	NM_016539.4(SIRT6):c.1003C>T (p.Arg335Trp)	SIRT6 (R200W +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2536559	NM_016539.4(SIRT6):c.290C>T (p.Ala97Val)	SIRT6 (A97V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	ABCA7, ABHD17A +151 more	Duplication	not provided	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 2406753	NM_016539.4(SIRT6):c.715G>A (p.Val239Ile)	SIRT6 (V167I +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2390230	NM_016539.4(SIRT6):c.985G>A (p.Ala329Thr)	SIRT6 (A194T +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2381833	NM_016539.4(SIRT6):c.268C>T (p.Arg90Trp)	SIRT6 (R90W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2372006	NM_016539.4(SIRT6):c.659G>A (p.Arg220Gln)	SIRT6 (R193Q +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345856	NM_016539.4(SIRT6):c.871C>T (p.Arg291Cys)	SIRT6 (R192C +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2309199	NM_016539.4(SIRT6):c.937G>A (p.Ala313Thr)	SIRT6 (A214T +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2302476	NM_016539.4(SIRT6):c.872G>A (p.Arg291His)	SIRT6 (R230H +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2276859	NM_016539.4(SIRT6):c.863C>A (p.Pro288His)	SIRT6 (P189H +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2271551	NM_016539.4(SIRT6):c.961G>A (p.Ala321Thr)	SIRT6 (A249T +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2265638	NM_016539.4(SIRT6):c.998G>A (p.Arg333Gln)	SIRT6 (R272Q +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2263110	NM_016539.4(SIRT6):c.955C>A (p.Pro319Thr)	SIRT6 (P220T +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2259783	NM_016539.4(SIRT6):c.703C>T (p.Arg235Cys)	SIRT6 (R174C +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2252761	NM_016539.4(SIRT6):c.960C>G (p.Cys320Trp)	SIRT6 (C248W +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2228274	NM_016539.4(SIRT6):c.258T>G (p.Phe86Leu)	SIRT6 (F86L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2217168	NM_016539.4(SIRT6):c.445G>A (p.Val149Ile)	SIRT6 (V149I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1340547	GRCh37/hg19 19p13.3(chr19:3501624-5357124)x1	ANKRD24, APBA3 +46 more	Copy number loss	not provided	GPathogenic
Select item 1340292	GRCh37/hg19 19p13.3(chr19:3788725-4225547)x1	ANKRD24, ATCAY +10 more	Copy number loss	not provided	GUncertain significance
Select item 1224695	NM_016539.4(SIRT6):c.739-7T>C	SIRT6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1047892	GRCh37/hg19 19p13.3(chr19:3976203-4345430)	STAP2, TMIGD2 +12 more	Copy number loss	Obesity +1 more	GPathogenic
Select item 929782	NM_016539.4(SIRT6):c.362G>A (p.Arg121His)	SIRT6 (R121H +1 more)	Single nucleotide variant (missense variant +1 more)	Premature ovarian failure	GLikely pathogenic
Select item 816518	GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	ABCA7, ABHD17A +138 more	Copy number gain	See cases	GPathogenic
Select item 790379	NM_016539.4(SIRT6):c.924C>G (p.Asn308Lys)	SIRT6 (N247K +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 790378	NM_016539.4(SIRT6):c.937G>T (p.Ala313Ser)	SIRT6 (A313S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 777379	NM_016539.4(SIRT6):c.823G>A (p.Ala275Thr)	SIRT6 (A203T +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 745137	NM_016539.4(SIRT6):c.882C>T (p.Thr294=)	SIRT6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 743024	NM_016539.4(SIRT6):c.444C>T (p.Tyr148=)	SIRT6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 724568	NM_016539.4(SIRT6):c.264C>T (p.Ser88=)	SIRT6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 686280	GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	ABCA7, ABHD17A +147 more	Copy number gain	not provided	GPathogenic
Select item 625734	GRCh37/hg19 19p13.3(chr19:3076808-4796782)	ANKRD24, APBA3 +48 more	Copy number loss	not provided	GPathogenic
Select item 595628	NM_016539.4(SIRT6):c.29C>A (p.Ser10Ter)	SIRT6 (S10*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 549647	Single allele	CREB3L3, SHD +28 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394432	GRCh37/hg19 19p13.3(chr19:4153714-4179574)x1	CREB3L3, SIRT6	Copy number loss	See cases	GUncertain significance
Select item 207888	NM_016539.4(SIRT6):c.742C>T (p.Arg248Cys)	SIRT6 (R248C +5 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 155547	GRCh38/hg38 19p13.3(chr19:3788727-5147354)x1	ANKRD24, ARRDC5 +150 more	Copy number loss	See cases	GLikely pathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
Select item 148645	GRCh38/hg38 19p13.3(chr19:3080621-4912622)x3	ANKRD24, APBA3 +223 more	Copy number gain	See cases	GLikely pathogenic
Select item 145414	GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1	ABHD17A, ADAT3 +387 more	Copy number loss	See cases	GPathogenic
Select item 145080	GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1	LOC121852974, LOC125371451 +193 more	Copy number loss	See cases	GPathogenic
Select item 144751	GRCh38/hg38 19p13.3(chr19:3947934-5196676)x3	ANKRD24, ARRDC5 +145 more	Copy number gain	See cases	GUncertain significance
Select item 60071	GRCh38/hg38 19p13.3(chr19:3554635-4690965)x1	ZFR2, ANKRD24 +142 more	Copy number loss	See cases	GPathogenic
Select item 59083	GRCh38/hg38 19p13.3(chr19:4008560-4763159)x3	ANKRD24, CHAF1A +99 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063246, LOC130063247 +810 more	Copy number gain	See cases	GPathogenic
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	ABCA7, ABHD17A +687 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 57