28043[HGNC] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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	LOC130059618, LOC130059619 +1429 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 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059185, LOC130059186 +869 more	Copy number gain	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 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	AARS1, ADAMTS18 +572 more	Copy number gain	See cases	GPathogenic
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 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 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 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	LOC126862439, LOC126862440 +1031 more	Copy number gain	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 2614581	NM_001201552.2(ZNF821):c.1199A>T (p.Lys400Met)	ZNF821 (K250M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298869	NM_001201552.2(ZNF821):c.1154A>G (p.Gln385Arg)	ZNF821 (Q235R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480569	NM_001201552.2(ZNF821):c.1131A>T (p.Leu377Phe)	ZNF821 (L227F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198632	NM_001201552.2(ZNF821):c.939C>T (p.Asp313=)	ZNF821	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3198631	NM_001201552.2(ZNF821):c.892A>G (p.Met298Val)	ZNF821 (M298V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198630	NM_001201552.2(ZNF821):c.740T>C (p.Leu247Pro)	ZNF821 (L97P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364099	NM_001201552.2(ZNF821):c.734G>A (p.Arg245His)	ZNF821 (R95H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198629	NM_001201552.2(ZNF821):c.670G>C (p.Ala224Pro)	ZNF821 (A224P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601584	NM_001201552.2(ZNF821):c.641G>T (p.Gly214Val)	ZNF821 (G214V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268221	NM_001201552.2(ZNF821):c.629T>A (p.Val210Asp)	ZNF821 (V210D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592331	NM_001201552.2(ZNF821):c.553G>A (p.Ala185Thr)	ZNF821 (A185T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309521	NM_001201552.2(ZNF821):c.460G>C (p.Val154Leu)	ZNF821 (V154L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535481	NM_001201552.2(ZNF821):c.400A>G (p.Ile134Val)	ZNF821 (I134V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198628	NM_001201552.2(ZNF821):c.356A>G (p.Gln119Arg)	ZNF821 (Q77R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592784	NM_001201552.2(ZNF821):c.305A>C (p.Glu102Ala)	ZNF821 (E60A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3198627	NM_001201552.2(ZNF821):c.137A>G (p.Gln46Arg)	ZNF821 (Q46R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2623896	NM_001201552.2(ZNF821):c.133A>G (p.Ile45Val)	ZNF821 (I45V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3198626	NM_001201552.2(ZNF821):c.107G>A (p.Gly36Glu)	ZNF821 (G36E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3198625	NM_001201552.2(ZNF821):c.103C>G (p.Pro35Ala)	ZNF821 (P35A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2494143	NM_001201552.2(ZNF821):c.83C>T (p.Ala28Val)	ZNF821 (A28V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	AARS1, ACD +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	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 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

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Items: 58