ClinVar for Gene (Select 9798) - ClinVar

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Links from Gene

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3111067	NM_001270975.2(IST1):c.948T>C (p.Pro316=)	IST1 (L315P)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3111066	NM_001270975.2(IST1):c.890C>T (p.Ala297Val)	IST1 (A297V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111065	NM_001270975.2(IST1):c.781A>G (p.Met261Val)	IST1 (M261V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3111064	NM_001270975.2(IST1):c.724A>C (p.Asn242His)	IST1 (N255H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111063	NM_001270975.2(IST1):c.551T>G (p.Met184Arg)	IST1 (M184R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111062	NM_001270975.2(IST1):c.476A>G (p.Lys159Arg)	IST1 (K159R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111061	NM_001270975.2(IST1):c.333G>T (p.Gln111His)	IST1 (Q111H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3024605	GRCh37/hg19 16q22.2(chr16:71949529-72058098)x1	DHODH, IST1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2886490	NM_001270975.2(IST1):c.759+9_759+10insAGTGTG	IST1	Insertion (intron variant)	not provided	GLikely benign
Select item 2685575	GRCh37/hg19 16q22.1-22.3(chr16:69709450-73535741)x1	AARS1, AP1G1 +40 more	Copy number loss	not provided	GPathogenic
Select item 2684813	GRCh37/hg19 16q22.1-23.2(chr16:70607067-81561138)x3	ADAMTS18, ADAT1 +67 more	Copy number gain	not provided	GPathogenic
Select item 2617998	NM_001270975.2(IST1):c.938C>T (p.Pro313Leu)	IST1 (L312F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612750	NM_001270975.2(IST1):c.960T>C (p.Tyr320=)	IST1 (M319T)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2558289	NM_001270975.2(IST1):c.1013C>T (p.Ala338Val)	IST1 (H337Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551784	NM_001270975.2(IST1):c.784G>C (p.Gly262Arg)	IST1 (G114R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542358	NM_001270975.2(IST1):c.568G>C (p.Gly190Arg)	IST1 (G190R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521238	NM_001270975.2(IST1):c.625C>T (p.Pro209Ser)	IST1 (P222S +2 more)	Single nucleotide variant (missense variant)	not specified	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 2411826	NM_001270975.2(IST1):c.355A>G (p.Ile119Val)	IST1 (I132V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396777	NM_001270975.2(IST1):c.953A>G (p.Asp318Gly)	IST1 (D170G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374807	NM_001270975.2(IST1):c.842C>G (p.Ser281Trp)	IST1 (S294W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351233	NM_001270975.2(IST1):c.785G>C (p.Gly262Ala)	IST1 (G114A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809158	GRCh37/hg19 16q22.2(chr16:71799420-72372326)x1	AP1G1, ATXN1L +9 more	Copy number loss	not provided	GUncertain significance
Select item 1809139	GRCh37/hg19 16q22.2(chr16:71422334-72110927)x4	AP1G1, ATXN1L +13 more	Copy number gain	not provided	GUncertain significance
Select item 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	IL17C, ZFHX3 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
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 1441673	NC_000016.9:g.(?_69680960)_(72146396_?)dup	AARS1, AP1G1 +37 more	Duplication	Immunodeficiency	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 815827	GRCh37/hg19 16q22.2(chr16:71822938-71974755)x1	PKD1L3, IST1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 775376	NM_001270975.2(IST1):c.510A>G (p.Ala170=)	IST1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 768785	NM_001270975.2(IST1):c.759+9_759+10insAG	IST1	Insertion (intron variant)	not provided	GBenign
Select item 564341	GRCh37/hg19 16q22.2-22.3(chr16:71561717-73724195)x1	TAT, PHLPP2 +15 more	Copy number loss	not provided	GLikely pathogenic
Select item 564338	GRCh37/hg19 16q22.1-22.2(chr16:70646969-72849701)x1	CMTR2, IST1 +22 more	Copy number loss	not provided	GLikely pathogenic
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	AARS1, ABCC1 +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +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	DPEP2, DPEP3 +811 more	Copy number gain	See cases	GPathogenic
Select item 221525	GRCh37/hg19 16q22.2(chr16:71103288-72092204)x1	AP1G1, ATXN1L +14 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	SLC7A6, SLC7A6OS +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059185, LOC130059186 +869 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059149, LOC130059150 +1738 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059618, LOC130059619 +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 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	LOC126862439, LOC126862440 +1031 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 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	See cases	GPathogenic
Select item 59995	GRCh38/hg38 16q22.2-22.3(chr16:71279916-73246687)x3	AP1G1, ATXN1L +99 more	Copy number gain	See cases	GUncertain significance
Select item 59514	GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1	AARS1, ADAT1 +295 more	Copy number loss	See cases	GPathogenic
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 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	HSBP1, HSD17B2 +1041 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	AARS1, ACD +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

ClinVar

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Germline classification

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Links from Gene

Items: 59