ClinVar for Gene (Select 57528) - ClinVar

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Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3287822	NM_020768.4(KCTD16):c.997G>A (p.Val333Met)	KCTD16 (V333M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287821	NM_020768.4(KCTD16):c.1280A>G (p.His427Arg)	KCTD16 (H427R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287820	NM_020768.4(KCTD16):c.865G>A (p.Asp289Asn)	KCTD16 (D289N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287819	NM_020768.4(KCTD16):c.1246C>T (p.His416Tyr)	KCTD16 (H416Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287818	NM_020768.4(KCTD16):c.1079G>A (p.Arg360Gln)	KCTD16 (R360Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113622	NM_020768.4(KCTD16):c.894C>A (p.Asp298Glu)	KCTD16 (D298E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113621	NM_020768.4(KCTD16):c.824T>C (p.Val275Ala)	KCTD16 (V275A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113620	NM_020768.4(KCTD16):c.779A>G (p.Asn260Ser)	KCTD16 (N260S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113619	NM_020768.4(KCTD16):c.458C>T (p.Pro153Leu)	KCTD16 (P153L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113618	NM_020768.4(KCTD16):c.457C>A (p.Pro153Thr)	KCTD16 (P153T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113617	NM_020768.4(KCTD16):c.439G>A (p.Asp147Asn)	KCTD16 (D147N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062812	GRCh37/hg19 5q31.3-32(chr5:141566629-147240595)x1	ARHGAP26, DPYSL3 +19 more	Copy number loss	not specified	GPathogenic
Select item 2684433	GRCh37/hg19 5q31.3(chr5:143365723-144316737)x3	KCTD16, YIPF5	Copy number gain	not provided	GUncertain significance
Select item 2592591	NM_020768.4(KCTD16):c.414C>G (p.Asp138Glu)	KCTD16 (D138E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555965	NM_020768.4(KCTD16):c.469C>T (p.Leu157Phe)	KCTD16 (L157F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554231	NM_020768.4(KCTD16):c.1165C>T (p.Leu389Phe)	KCTD16 (L389F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513920	NM_020768.4(KCTD16):c.212G>C (p.Gly71Ala)	KCTD16 (G71A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321325	NM_020768.4(KCTD16):c.1132A>G (p.Met378Val)	KCTD16 (M378V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293414	NM_020768.4(KCTD16):c.95G>T (p.Gly32Val)	KCTD16 (G32V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264173	NM_020768.4(KCTD16):c.1177G>A (p.Glu393Lys)	KCTD16 (E393K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246012	NM_020768.4(KCTD16):c.1247A>C (p.His416Pro)	KCTD16 (H416P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240825	NM_020768.4(KCTD16):c.1197C>G (p.Ile399Met)	KCTD16 (I399M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 687529	GRCh37/hg19 5q31.3-32(chr5:140424333-148985999)x3	ABLIM3, ADRB2 +92 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	ARAP3, ARB2A +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 442272	GRCh37/hg19 5q31.3-32(chr5:141113273-149154835)x1	ABLIM3, ADRB2 +48 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 150685	GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3	ABLIM3, ADRB2 +313 more	Copy number gain	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 147800	GRCh38/hg38 5q31.3(chr5:144019753-144858721)x3	KCTD16, LOC126807536 +6 more	Copy number gain	See cases	GUncertain significance
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 58388	GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	ANKHD1, ANKHD1-DT +377 more	Copy number loss	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 37