14240[HGNC] - ClinVar

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Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 more	Copy number gain	See cases	GPathogenic
Select item 2209975	NM_018667.4(SMPD3):c.1961A>C (p.Glu654Ala)	SMPD3 (E654A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321018	NM_018667.4(SMPD3):c.1903G>A (p.Gly635Ser)	SMPD3 (G635S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321022	NM_018667.4(SMPD3):c.1814G>A (p.Arg605His)	SMPD3 (R605H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316054	NM_018667.4(SMPD3):c.1784G>A (p.Arg595Gln)	SMPD3 (R595Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321017	NM_018667.4(SMPD3):c.1783C>T (p.Arg595Trp)	SMPD3 (R595W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382861	NM_018667.4(SMPD3):c.1675G>A (p.Asp559Asn)	SMPD3 (D559N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166654	NM_018667.4(SMPD3):c.1666G>A (p.Gly556Ser)	SMPD3 (G556S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246459	NM_018667.4(SMPD3):c.1610G>A (p.Arg537His)	SMPD3 (R537H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621862	NM_018667.4(SMPD3):c.1487C>T (p.Ala496Val)	SMPD3 (A496V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354384	NM_018667.4(SMPD3):c.1415G>A (p.Arg472Gln)	SMPD3 (R472Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353701	NM_018667.4(SMPD3):c.1360G>A (p.Val454Ile)	SMPD3 (V454I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321023	NM_018667.4(SMPD3):c.1334G>A (p.Gly445Glu)	SMPD3 (G445E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314011	NM_018667.4(SMPD3):c.1285G>A (p.Asp429Asn)	SMPD3 (D429N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521368	NM_018667.4(SMPD3):c.1280G>A (p.Cys427Tyr)	SMPD3 (C427Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347702	NM_018667.4(SMPD3):c.1248G>A (p.Met416Ile)	SMPD3 (M416I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166651	NM_018667.4(SMPD3):c.1187G>A (p.Gly396Asp)	SMPD3 (G396D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343793	NM_018667.4(SMPD3):c.1177G>A (p.Gly393Ser)	SMPD3 (G393S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166650	NM_018667.4(SMPD3):c.1027G>A (p.Glu343Lys)	SMPD3 (E343K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166649	NM_018667.4(SMPD3):c.1016G>A (p.Arg339Gln)	SMPD3 (R339Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382769	NM_018667.4(SMPD3):c.1003G>A (p.Ala335Thr)	SMPD3 (A335T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485679	NM_018667.4(SMPD3):c.992A>G (p.Lys331Arg)	SMPD3 (K331R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234820	NM_018667.4(SMPD3):c.962G>A (p.Ser321Asn)	SMPD3 (S321N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553158	NM_018667.4(SMPD3):c.913G>A (p.Gly305Arg)	SMPD3 (G305R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233828	NM_018667.4(SMPD3):c.895C>T (p.Arg299Trp)	SMPD3 (R299W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332230	NM_018667.4(SMPD3):c.872G>A (p.Ser291Asn)	SMPD3 (S291N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365082	NM_018667.4(SMPD3):c.824C>G (p.Pro275Arg)	SMPD3 (P275R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166662	NM_018667.4(SMPD3):c.778G>A (p.Asp260Asn)	SMPD3 (D260N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321019	NM_018667.4(SMPD3):c.766C>T (p.Pro256Ser)	SMPD3 (P256S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236552	NM_018667.4(SMPD3):c.757G>A (p.Gly253Ser)	SMPD3 (G253S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2222419	NM_018667.4(SMPD3):c.748G>A (p.Glu250Lys)	SMPD3 (E250K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166661	NM_018667.4(SMPD3):c.743G>A (p.Gly248Asp)	SMPD3 (G248D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598961	NM_018667.4(SMPD3):c.737G>A (p.Arg246His)	SMPD3 (R246H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516484	NM_018667.4(SMPD3):c.736C>A (p.Arg246Ser)	SMPD3 (R246S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482578	NM_018667.4(SMPD3):c.724G>T (p.Ala242Ser)	SMPD3 (A242S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373396	NM_018667.4(SMPD3):c.716C>G (p.Pro239Arg)	SMPD3 (P239R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209072	NM_018667.4(SMPD3):c.679G>C (p.Gly227Arg)	SMPD3 (G227R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603141	NM_018667.4(SMPD3):c.653G>A (p.Arg218Gln)	SMPD3 (R218Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359000	NM_018667.4(SMPD3):c.635A>G (p.Tyr212Cys)	SMPD3 (Y212C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166660	NM_018667.4(SMPD3):c.628G>C (p.Val210Leu)	SMPD3 (V210L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166659	NM_018667.4(SMPD3):c.604G>A (p.Gly202Arg)	SMPD3 (G202R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404544	NM_018667.4(SMPD3):c.593G>A (p.Arg198Gln)	SMPD3 (R198Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166658	NM_018667.4(SMPD3):c.487G>A (p.Ala163Thr)	SMPD3 (A163T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480556	NM_018667.4(SMPD3):c.476G>A (p.Arg159His)	SMPD3 (R159H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596218	NM_018667.4(SMPD3):c.439A>C (p.Thr147Pro)	SMPD3 (T147P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166656	NM_018667.4(SMPD3):c.422T>C (p.Val141Ala)	SMPD3 (V141A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321021	NM_018667.4(SMPD3):c.299T>G (p.Leu100Arg)	SMPD3 (L100R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321024	NM_018667.4(SMPD3):c.296G>A (p.Arg99Gln)	SMPD3 (R99Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166655	NM_018667.4(SMPD3):c.295C>T (p.Arg99Trp)	SMPD3 (R99W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407764	NM_018667.4(SMPD3):c.191C>T (p.Thr64Met)	SMPD3 (T64M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166653	NM_018667.4(SMPD3):c.160T>A (p.Cys54Ser)	SMPD3 (C54S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166652	NM_018667.4(SMPD3):c.155C>T (p.Pro52Leu)	SMPD3 (P52L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226937	NM_018667.4(SMPD3):c.98G>A (p.Arg33Gln)	SMPD3 (R33Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166657	NM_018667.4(SMPD3):c.44C>T (p.Ala15Val)	SMPD3 (A15V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374812	NM_018667.4(SMPD3):c.43G>A (p.Ala15Thr)	SMPD3 (A15T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
Select item 3063446	GRCh37/hg19 16q22.1(chr16:67583728-69977397)x3	ACD, C16orf86 +48 more	Copy number gain	not specified	GUncertain significance
Select item 2684810	GRCh37/hg19 16q22.1(chr16:68292285-69424236)x3	CDH1, CDH3 +17 more	Copy number gain	not provided	GUncertain significance
Select item 2684809	GRCh37/hg19 16q22.1(chr16:67498380-68754276)x3	ACD, AGRP +33 more	Copy number gain	not provided	GUncertain significance
Select item 2424241	NC_000016.9:g.(?_68349883)_(68732303_?)del	CDH3, PRMT7 +2 more	Deletion	not provided	GPathogenic
Select item 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	CYB5B, DDX19A +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 1807851	GRCh37/hg19 16q22.1(chr16:68326200-68970975)x3	CDH1, CDH3 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 815823	GRCh37/hg19 16q21-22.1(chr16:65669673-70180183)x1	EXOC3L1, ESRP2 +95 more	Copy number loss	not provided	GPathogenic
Select item 564337	GRCh37/hg19 16q22.1(chr16:68417085-68914451)x3	ZFP90, SMPD3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 564331	GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3	AARS1, ACD +194 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	CA7, COG8 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	KCTD19, KIAA0513 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 395249	GRCh37/hg19 16q22.1(chr16:67654566-68404073)x1	ACD, C16orf86 +28 more	Copy number loss	See cases	GLikely pathogenic
Select item 221523	GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1	AARS1, ACD +174 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	ATXN1L, B3GNT9 +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	ADGRG5, CFAP263 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 86