ClinVar for Gene (Select 51096) - ClinVar

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Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3331716	NM_016001.3(UTP18):c.1445A>G (p.Asn482Ser)	UTP18 (N482S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331714	NM_016001.3(UTP18):c.28A>G (p.Lys10Glu)	MBTD1, UTP18 (K10E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331713	NM_016001.3(UTP18):c.223C>T (p.Arg75Trp)	MBTD1, UTP18 (R75W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331712	NM_016001.3(UTP18):c.406C>T (p.Pro136Ser)	UTP18 (P136S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242218	Single allele	KIF18B, LPO +196 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3187904	NM_016001.3(UTP18):c.911G>A (p.Ser304Asn)	UTP18 (S304N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187903	NM_016001.3(UTP18):c.604C>T (p.Arg202Trp)	UTP18 (R202W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187902	NM_016001.3(UTP18):c.466A>G (p.Met156Val)	UTP18 (M156V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187901	NM_016001.3(UTP18):c.175G>A (p.Ala59Thr)	MBTD1, UTP18 (A59T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187899	NM_016001.3(UTP18):c.137C>T (p.Ser46Phe)	MBTD1, UTP18 (S46F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187898	NM_016001.3(UTP18):c.1153G>A (p.Val385Ile)	UTP18 (V385I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3187897	NM_016001.3(UTP18):c.1007T>C (p.Val336Ala)	UTP18 (V336A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607405	NM_016001.3(UTP18):c.1514C>T (p.Pro505Leu)	UTP18 (P505L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603063	NM_016001.3(UTP18):c.230G>A (p.Arg77His)	MBTD1, UTP18 (R77H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545024	NM_016001.3(UTP18):c.688T>A (p.Ser230Thr)	UTP18 (S230T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539994	NM_016001.3(UTP18):c.1144A>G (p.Asn382Asp)	UTP18 (N382D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521510	NM_016001.3(UTP18):c.94G>A (p.Gly32Arg)	MBTD1, UTP18 (G32R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2512008	NM_016001.3(UTP18):c.968A>G (p.Tyr323Cys)	UTP18 (Y323C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509411	NM_016001.3(UTP18):c.757C>T (p.Arg253Trp)	UTP18 (R253W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460256	NM_016001.3(UTP18):c.1654C>T (p.His552Tyr)	UTP18 (H552Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457057	NM_016001.3(UTP18):c.364G>C (p.Gly122Arg)	UTP18 (G122R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389907	NM_016001.3(UTP18):c.1280A>G (p.Tyr427Cys)	UTP18 (Y427C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386162	NM_016001.3(UTP18):c.638A>G (p.Asp213Gly)	UTP18 (D213G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380868	NM_016001.3(UTP18):c.257C>T (p.Ala86Val)	MBTD1, UTP18 (A86V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375421	NM_016001.3(UTP18):c.47G>A (p.Gly16Glu)	MBTD1, UTP18 (G16E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307439	NM_016001.3(UTP18):c.638A>T (p.Asp213Val)	UTP18 (D213V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296021	NM_016001.3(UTP18):c.544C>T (p.Leu182Phe)	UTP18 (L182F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289703	NM_016001.3(UTP18):c.482G>A (p.Arg161Gln)	UTP18 (R161Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279818	NM_016001.3(UTP18):c.1403C>G (p.Ala468Gly)	UTP18 (A468G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272643	NM_016001.3(UTP18):c.1287A>C (p.Leu429Phe)	UTP18 (L429F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269683	NM_016001.3(UTP18):c.1502T>G (p.Leu501Trp)	UTP18 (L501W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268932	NM_016001.3(UTP18):c.11A>G (p.Glu4Gly)	MBTD1, UTP18 (E4G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244173	NM_016001.3(UTP18):c.66G>T (p.Lys22Asn)	MBTD1, UTP18 (K22N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243820	NM_016001.3(UTP18):c.337C>T (p.Pro113Ser)	LOC130061205, MBTD1 +1 more (P113S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240106	NM_016001.3(UTP18):c.1105G>A (p.Ala369Thr)	UTP18 (A369T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213182	NM_016001.3(UTP18):c.1534A>G (p.Asn512Asp)	UTP18 (N512D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 444852	GRCh37/hg19 17q21.32-22(chr17:46481089-51396368)x1	HOXB3, HOXB4 +67 more	Copy number loss	not provided	GLikely pathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 394158	GRCh37/hg19 17q21.33-23.2(chr17:49076980-58740945)x3	AKAP1, ANKFN1 +65 more	Copy number gain	See cases	GPathogenic
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 59590	GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1	ABCC3, ACSF2 +196 more	Copy number loss	See cases	GPathogenic
Select item 59589	GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1	ABCC3, ABI3 +203 more	Copy number loss	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 46