ClinVar for Gene (Select 9277) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3332844	NM_005452.6(WDR46):c.1288G>C (p.Gly430Arg)	WDR46 (G376R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332843	NM_005452.6(WDR46):c.305C>T (p.Ala102Val)	WDR46 (A102V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332842	NM_005452.6(WDR46):c.971G>A (p.Ser324Asn)	WDR46 (S270N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246013	NC_000006.11:g.(?_33131455)_(33388128_?)dup	B3GALT4, COL11A2 +17 more	Duplication	MHC class I deficiency	GUncertain significance
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	ARMC12, BRPF3 +94 more	Duplication	not provided	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 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)	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 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	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 48