HP[gene] - ClinVar

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Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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	LOC132090408, LOC132090409 +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	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +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 148076	GRCh38/hg38 16q22.2(chr16:72044363-72253331)x3	DHX38, HP +13 more	Copy number gain	See cases	GUncertain significance
Select item 15900	NC_000016.10:g.(?_72054504)_(?_72076977)del	HP, HPR	Deletion	Anhaptoglobinemia +1 more	GPathogenic; Affects
Select item 15901	NM_005143.5(HP):c.-91A>C	HP	Single nucleotide variant (5 prime UTR variant)	Anhaptoglobinemia	GAffects
Select item 717956	NM_005143.5(HP):c.8C>A (p.Ala3Asp)	HP (A3D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2456766	NM_005143.5(HP):c.19G>C (p.Val7Leu)	HP (V7L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321573	NM_005143.5(HP):c.46C>A (p.Leu16Ile)	HP (L16I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 225387	NM_005143.5(HP):c.111dup (p.Glu38fs)	HP (E38fs)	Duplication (frameshift variant)	Anhaptoglobinemia	GUncertain significance
Select item 777878	NM_005143.5(HP):c.112G>A (p.Glu38Lys)	HP (E38K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2214383	NM_005143.5(HP):c.208G>A (p.Asp70Asn)	HP (D70N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2214384	NM_005143.5(HP):c.211A>G (p.Lys71Glu)	HP (K71E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 15898	NM_005143.5(HP):c.214A>G (p.Lys72Glu)	HP (K72E)	Single nucleotide variant (missense variant +1 more)	HAPTOGLOBIN, ALPHA-1, FAST-SLOW POLYMORPHISM	GBenign
Select item 2209265	NM_005143.5(HP):c.389A>G (p.Glu130Gly)	HP (E130G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 221526	GRCh38/hg38 16q22.2(chr16:72059151-72063259)x0	HP, HPR	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 3052875	NM_005143.5(HP):c.443-5G>A	HP	Single nucleotide variant (intron variant)	HP-related disorder	GLikely benign
Select item 2512377	NM_005143.5(HP):c.464C>A (p.Pro155Gln)	HP (P155Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267717	NM_005143.5(HP):c.464C>G (p.Pro155Arg)	HP (P96R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224331	NM_005143.5(HP):c.482G>A (p.Arg161Gln)	HP (R102Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273059	NM_005143.5(HP):c.512G>A (p.Gly171Asp)	HP (G112D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106766	NM_005143.5(HP):c.550A>T (p.Asn184Tyr)	HP (N125Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782963	NM_005143.5(HP):c.564T>G (p.Gly188=)	HP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3106767	NM_005143.5(HP):c.659C>T (p.Thr220Ile)	HP (T161I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284709	NM_005143.5(HP):c.668T>C (p.Leu223Pro)	HP (L223P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245274	NM_005143.5(HP):c.683A>C (p.Lys228Thr)	HP (K169T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734198	NM_005143.5(HP):c.708T>G (p.Val236=)	HP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2210673	NM_005143.5(HP):c.718C>A (p.Pro240Thr)	HP (P181T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 15902	NM_005143.5(HP):c.740T>C (p.Ile247Thr)	HP (I247T +1 more)	Single nucleotide variant (missense variant)	Anhaptoglobinemia	GAffects
Select item 735740	NM_005143.5(HP):c.759A>G (p.Lys253=)	HP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3060365	NM_005143.5(HP):c.780G>A (p.Glu260=)	HP	Single nucleotide variant (synonymous variant)	HP-related disorder	GBenign
Select item 2588062	NM_005143.5(HP):c.811G>A (p.Asp271Asn)	HP (D212N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345586	NM_005143.5(HP):c.830G>A (p.Arg277His)	HP (R218H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233766	NM_005143.5(HP):c.832G>A (p.Val278Met)	HP (V219M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3352037	NM_005143.5(HP):c.855G>A (p.Gly285=)	HP	Single nucleotide variant (synonymous variant)	HP-related disorder	GLikely benign
Select item 2367821	NM_005143.5(HP):c.857G>A (p.Arg286Gln)	HP (R227Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242061	NM_005143.5(HP):c.886C>A (p.Leu296Met)	HP (L237M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708606	NM_005143.5(HP):c.957C>T (p.Pro319=)	HP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3106768	NM_005143.5(HP):c.970C>T (p.Pro324Ser)	HP (P324S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340725	NM_005143.5(HP):c.971C>T (p.Pro324Leu)	HP (P324L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646805	NM_005143.5(HP):c.1005T>C (p.Asn335=)	HP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 761362	NM_005143.5(HP):c.1044A>G (p.Glu348=)	HP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646806	NM_005143.5(HP):c.1059C>T (p.Gly353=)	HP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3284708	NM_005143.5(HP):c.1064C>T (p.Ala355Val)	HP (A296V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726169	NM_005143.5(HP):c.1083T>C (p.Val361=)	HP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 768787	NM_005143.5(HP):c.1086C>T (p.His362=)	HP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2331913	NM_005143.5(HP):c.1087G>A (p.Asp363Asn)	HP (D304N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782789	NM_005143.5(HP):c.1110T>C (p.Tyr370=)	HP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3106764	NM_005143.5(HP):c.1112C>G (p.Ala371Gly)	HP (A371G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106765	NM_005143.5(HP):c.1145C>T (p.Ala382Val)	HP (A323V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243655	NC_000016.9:g.(?_70286624)_(72146396_?)del	COG4, AARS1 +27 more	Deletion	not provided	GPathogenic
Select item 3243300	NC_000016.9:g.(?_68679283)_(72146396_?)del	AARS1, AP1G1 +51 more	Deletion	Immunodeficiency	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	CYB5B, DDX19A +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	ACSF3, ADAD2 +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	AARS1, ABCC11 +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 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	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 395554	GRCh37/hg19 16q22.2(chr16:72093025-72110913)x3	HP, HPR	Copy number gain	See cases	GBenign
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 394906	GRCh37/hg19 16q22.2(chr16:72093025-72119382)x3	HP, HPR +1 more	Copy number gain	See cases	GBenign
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	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
Select item 15899	NG_012651.1:g.=	HP	Duplication	Haptoglobin, alpha-2	GPathogenic

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Items: 89