ClinVar for Gene (Select 9277) - ClinVar

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Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3190073	NM_005452.6(WDR46):c.964G>A (p.Val322Ile)	WDR46 (V268I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190072	NM_005452.6(WDR46):c.838C>T (p.Arg280Trp)	WDR46 (R226W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190071	NM_005452.6(WDR46):c.599G>A (p.Arg200Lys)	WDR46 (R146K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190070	NM_005452.6(WDR46):c.1752C>G (p.Ser584Arg)	WDR46 (S584R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190069	NM_005452.6(WDR46):c.1640A>G (p.Lys547Arg)	WDR46 (K493R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190068	NM_005452.6(WDR46):c.151C>G (p.Arg51Gly)	WDR46 (R51G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190067	NM_005452.6(WDR46):c.1250C>T (p.Ala417Val)	WDR46 (A417V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190066	NM_005452.6(WDR46):c.1127C>T (p.Thr376Ile)	WDR46 (T322I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610981	NM_005452.6(WDR46):c.1376A>C (p.Glu459Ala)	WDR46 (E459A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513292	NM_005452.6(WDR46):c.1778C>T (p.Ala593Val)	WDR46 (A539V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511649	NM_005452.6(WDR46):c.841C>T (p.Leu281Phe)	WDR46 (L227F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494829	NM_005452.6(WDR46):c.1775A>C (p.Glu592Ala)	WDR46 (E538A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494828	NM_005452.6(WDR46):c.1771A>G (p.Lys591Glu)	WDR46 (K537E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486579	NM_005452.6(WDR46):c.1801C>T (p.Arg601Trp)	WDR46 (R547W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460634	NM_005452.6(WDR46):c.644G>A (p.Arg215His)	WDR46 (R161H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ANKS1A, FKBP5 +94 more	Duplication	not provided	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 2389590	NM_005452.6(WDR46):c.817C>T (p.Arg273Cys)	WDR46 (R273C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384285	NM_005452.6(WDR46):c.1556G>A (p.Arg519Gln)	WDR46 (R465Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378037	NM_005452.6(WDR46):c.470C>T (p.Pro157Leu)	WDR46 (P103L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366882	NM_005452.6(WDR46):c.926T>C (p.Ile309Thr)	WDR46 (I255T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361982	NM_005452.6(WDR46):c.878C>T (p.Ala293Val)	WDR46 (A239V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327591	NM_005452.6(WDR46):c.1199T>C (p.Leu400Pro)	WDR46 (L346P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287691	NM_005452.6(WDR46):c.806T>C (p.Leu269Pro)	WDR46 (L269P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274677	NM_005452.6(WDR46):c.661G>A (p.Ala221Thr)	WDR46 (A167T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271318	NM_005452.6(WDR46):c.1334G>A (p.Arg445Gln)	WDR46 (R391Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261061	NM_005452.6(WDR46):c.1723G>A (p.Glu575Lys)	WDR46 (E521K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258721	NM_005452.6(WDR46):c.1781A>G (p.Lys594Arg)	WDR46 (K594R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251471	NM_005452.6(WDR46):c.673G>A (p.Val225Ile)	WDR46 (V171I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244175	NM_005452.6(WDR46):c.491A>T (p.Asp164Val)	WDR46 (D110V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242641	NM_005452.6(WDR46):c.1013A>G (p.Asn338Ser)	WDR46 (N284S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240137	NM_005452.6(WDR46):c.794A>G (p.Gln265Arg)	WDR46 (Q211R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227750	NM_005452.6(WDR46):c.371C>T (p.Ser124Phe)	WDR46 (S124F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208521	NM_005452.6(WDR46):c.1435G>A (p.Gly479Ser)	WDR46 (G425S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208303	NM_005452.6(WDR46):c.1801C>G (p.Arg601Gly)	WDR46 (R547G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527234	GRCh37/hg19 6p21.32-21.31(chr6:33069892-33751391)	B3GALT4, BAK1 +23 more	Copy number gain	not specified	GUncertain significance
Select item 831717	NC_000006.12:g.(?_33173681)_(33451926_?)dup	B3GALT4, COL11A2 +17 more	Duplication	Intellectual disability, autosomal dominant 5	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 660703	NC_000006.11:g.(?_33131435)_(33419703_?)dup	B3GALT4, COL11A2 +26 more	Duplication	Intellectual disability, autosomal dominant 5	GUncertain significance
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)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 221456	GRCh37/hg19 6p21.32(chr6:33256191-33400523)x3	KIFC1, CUTA +8 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 44