ClinVar for Gene (Select 3038) - ClinVar

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Links from Gene

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2623151	NM_001199280.2(HAS3):c.661G>C (p.Asp221His)	HAS3 (D221H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620968	NM_001199280.2(HAS3):c.184T>C (p.Phe62Leu)	HAS3 (F62L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601055	NM_001199280.2(HAS3):c.455G>A (p.Arg152His)	HAS3 (R152H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551621	NM_001199280.2(HAS3):c.514G>A (p.Asp172Asn)	HAS3 (D172N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530004	NM_001199280.2(HAS3):c.29G>A (p.Arg10His)	HAS3 (R10H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491245	NM_024562.2(TANGO6):c.3238C>A (p.Leu1080Met)	HAS3, TANGO6 (L1080M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487235	NM_024562.2(TANGO6):c.3239T>C (p.Leu1080Pro)	HAS3, TANGO6 (L1080P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484026	NM_001199280.2(HAS3):c.92C>T (p.Thr31Met)	HAS3 (T31M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478364	NM_001199280.2(HAS3):c.488C>T (p.Thr163Met)	HAS3 (T163M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465806	NM_001199280.2(HAS3):c.785G>A (p.Arg262Gln)	HAS3 (R262Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2456890	NM_001199280.2(HAS3):c.317G>A (p.Arg106His)	HAS3 (R106H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	AARS1, ACD +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2374271	NM_001199280.2(HAS3):c.1657G>C (p.Val553Leu)	HAS3 (V553L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2332547	NM_001199280.2(HAS3):c.430G>A (p.Glu144Lys)	HAS3 (E144K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321272	NM_024562.2(TANGO6):c.3134T>C (p.Leu1045Pro)	TANGO6, HAS3 (L1045P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316288	NM_001199280.2(HAS3):c.1398G>C (p.Trp466Cys)	HAS3 (W466C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2311132	NM_024562.2(TANGO6):c.3281C>T (p.Pro1094Leu)	TANGO6, HAS3 (P1094L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301431	NM_024562.2(TANGO6):c.3133C>T (p.Leu1045Phe)	HAS3, TANGO6 (L1045F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272810	NM_001199280.2(HAS3):c.136G>A (p.Gly46Ser)	HAS3 (G46S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268244	NM_001199280.2(HAS3):c.1346G>A (p.Ser449Asn)	HAS3 (S449N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2244015	NM_001199280.2(HAS3):c.524G>A (p.Arg175Gln)	HAS3 (R175Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225767	NM_001199280.2(HAS3):c.1244C>T (p.Thr415Met)	HAS3 (T415M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1706519	GRCh37/hg19 16q22.1-23.1(chr16:68971067-74823560)x1	TXNL4B, UTP4 +59 more	Copy number loss	See cases	GPathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	SYCE1L, TAF1C +368 more	Copy number gain	not provided	GPathogenic
Select item 1526514	GRCh37/hg19 16q22.1(chr16:68850677-69377553)	SNTB2, CDH1 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1209936	NM_001199280.2(HAS3):c.202C>T (p.Arg68Trp)	HAS3 (R68W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 980685	GRCh37/hg19 16q22.1(chr16:68689253-69168290)x3	HAS3, CDH3 +4 more	Copy number gain	not provided	GUncertain significance
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 808177	GRCh37/hg19 16q22.1(chr16:68679283-69221649)x3	UTP4, CDH1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 781209	NM_001199280.2(HAS3):c.1590A>G (p.Leu530=)	HAS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 731126	NM_001199280.2(HAS3):c.1577C>G (p.Ala526Gly)	HAS3 (A526G)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 709923	NM_001199280.2(HAS3):c.214C>T (p.Arg72Cys)	HAS3 (R72C)	Single nucleotide variant (missense variant)	not provided	GBenign
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	AARS1, ABCC11 +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	ADCY7, ADGRG1 +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	AGRP, AHSP +590 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	JPT2, KARS1 +810 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	ADAD2, ADAMTS18 +810 more	Copy number gain	See cases	GPathogenic
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ADGRG3 +292 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	KCTD13, KCTD19 +810 more	Copy number gain	See cases	GPathogenic
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	GALNS, GAN +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	CARMIL2, CIAPIN1 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	AARS1, ACD +869 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059466, LOC130059467 +1738 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	ACD, ACSF3 +1429 more	Copy number gain	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	AARS1, ADAMTS18 +572 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 147207	GRCh38/hg38 16q22.1(chr16:68937032-69254118)x3	CHTF8, DERPC +9 more	Copy number gain	See cases	GUncertain significance
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	LOC128772417, LOC128772418 +939 more	Copy number gain	See cases	GPathogenic
Select item 91963	NM_001199280.2(HAS3):c.141G>T (p.Leu47=)	HAS3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 59495	GRCh38/hg38 16q22.1-23.1(chr16:68698941-74353205)x1	AARS1, AP1G1 +263 more	Copy number loss	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC130059153, LOC130059154 +1426 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 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	AARS1, ACD +599 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 61