23471[HGNC] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	PROSER2-AS1, PRPF18 +680 more	Copy number loss	See cases	GPathogenic
Select item 154187	GRCh38/hg38 10p15.3-13(chr10:54086-13205916)x3	MIR5699, MIR6072 +496 more	Copy number gain	See cases	GPathogenic
Select item 58710	GRCh38/hg38 10p15.3-15.1(chr10:69260-6209368)x1	ADARB2, ADARB2-AS1 +276 more	Copy number loss	See cases	GPathogenic
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 150048	GRCh38/hg38 10p15.3-13(chr10:70478-13736564)x1	LOC130003277, LOC130003278 +520 more	Copy number loss	See cases	GPathogenic
Select item 146014	GRCh38/hg38 10p15.3-13(chr10:73856-12815915)x3	LOC132090805, MANCR +482 more	Copy number gain	See cases	GPathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 146220	GRCh38/hg38 10p15.3-14(chr10:90421-11713049)x3	LOC130003153, LOC130003154 +421 more	Copy number gain	See cases	GPathogenic
Select item 57431	GRCh38/hg38 10p15.3-14(chr10:90421-6769994)x3	ADARB2, ADARB2-AS1 +298 more	Copy number gain	See cases	GPathogenic
Select item 57407	GRCh38/hg38 10p15.3-14(chr10:90421-8442783)x3	ADARB2, ADARB2-AS1 +352 more	Copy number gain	See cases	GPathogenic
Select item 154099	GRCh38/hg38 10p15.3-14(chr10:1601172-9203729)x3	ADARB2, AKR1C1 +304 more	Copy number gain	See cases	GLikely pathogenic
Select item 545134	Single allele	LOC130003188, LOC130003189 +195 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 146553	GRCh38/hg38 10p15.1-14(chr10:4605831-7403265)x1	AKR1C1, AKR1C2 +175 more	Copy number loss	See cases	GUncertain significance
Select item 58717	GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1	LOC130003217, LOC130003218 +482 more	Copy number loss	See cases	GPathogenic
Select item 3296477	NM_019046.3(ANKRD16):c.1039A>G (p.Arg347Gly)	ANKRD16 (R347G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259171	NM_019046.3(ANKRD16):c.1034T>A (p.Leu345His)	ANKRD16 (L345H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523095	NM_019046.3(ANKRD16):c.1016G>T (p.Gly339Val)	ANKRD16 (G339V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123332	NM_019046.3(ANKRD16):c.880T>G (p.Leu294Val)	ANKRD16 (L294V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223861	NM_019046.3(ANKRD16):c.802G>A (p.Val268Met)	ANKRD16 (V268M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296488	NM_019046.3(ANKRD16):c.700G>T (p.Ala234Ser)	ANKRD16 (A234S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540370	NM_019046.3(ANKRD16):c.676G>A (p.Asp226Asn)	ANKRD16 (D226N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516080	NM_019046.3(ANKRD16):c.655G>A (p.Asp219Asn)	ANKRD16 (D219N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308370	NM_019046.3(ANKRD16):c.626T>C (p.Leu209Ser)	ANKRD16 (L209S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123316	NM_019046.3(ANKRD16):c.622G>A (p.Ala208Thr)	ANKRD16 (A208T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267123	NM_019046.3(ANKRD16):c.622G>C (p.Ala208Pro)	ANKRD16 (A208P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3123313	NM_019046.3(ANKRD16):c.619A>G (p.Thr207Ala)	ANKRD16 (T207A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123308	NM_019046.3(ANKRD16):c.616G>A (p.Val206Ile)	ANKRD16 (V206I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570384	NM_019046.3(ANKRD16):c.542A>G (p.His181Arg)	ANKRD16 (H181R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590805	NM_019046.3(ANKRD16):c.530C>T (p.Thr177Ile)	ANKRD16 (T177I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123300	NM_019046.3(ANKRD16):c.503G>A (p.Ser168Asn)	ANKRD16 (S168N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624166	NM_019046.3(ANKRD16):c.457C>T (p.Leu153Phe)	ANKRD16 (L153F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471349	NM_019046.3(ANKRD16):c.437G>A (p.Arg146Gln)	ANKRD16 (R146Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123284	NM_019046.3(ANKRD16):c.328A>T (p.Met110Leu)	ANKRD16 (M110L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400797	NM_019046.3(ANKRD16):c.310G>A (p.Asp104Asn)	ANKRD16 (D104N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515664	NM_019046.3(ANKRD16):c.281G>A (p.Gly94Glu)	ANKRD16 (G94E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298872	NM_019046.3(ANKRD16):c.277C>T (p.Arg93Trp)	ANKRD16 (R93W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236150	NM_019046.3(ANKRD16):c.228C>G (p.His76Gln)	ANKRD16 (H76Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296466	NM_019046.3(ANKRD16):c.154G>T (p.Val52Leu)	ANKRD16, LOC130003219 (V52L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217906	NM_019046.3(ANKRD16):c.127T>C (p.Cys43Arg)	ANKRD16, LOC130003219 (C43R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208886	NM_019046.3(ANKRD16):c.118C>G (p.Leu40Val)	ANKRD16, LOC130003219 (L40V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218478	NM_019046.3(ANKRD16):c.106G>A (p.Ala36Thr)	ANKRD16, LOC130003219 (A36T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123261	NM_019046.3(ANKRD16):c.104C>G (p.Pro35Arg)	ANKRD16, LOC130003219 (P35R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570383	NM_019046.3(ANKRD16):c.40G>A (p.Val14Met)	ANKRD16, LOC130003219 (V14M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237678	NM_019046.3(ANKRD16):c.20C>T (p.Pro7Leu)	ANKRD16, LOC130003219 (P7L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148909	GRCh37/hg19 10p15.3-14(chr10:1274308-12045503)x3	ADARB2, AKR1C1 +35 more	Copy number gain	See cases	GUncertain significance
Select item 1807587	GRCh37/hg19 10p15.3-13(chr10:100027-12648149)x3	CDC123, CELF2 +47 more	Copy number gain	not provided	GUncertain significance
Select item 1527575	GRCh37/hg19 10p15.3-14(chr10:2116123-8856296)	AKR1C1, AKR1C2 +29 more	Copy number gain	not specified	GUncertain significance
Select item 1340138	GRCh37/hg19 10p15.1-14(chr10:4927427-6653936)x3	AKR1C1, AKR1C2 +18 more	Copy number gain	not provided	GUncertain significance
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ARL5B, LARP4B +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 1077184	Single allele	AKR1C1, AKR1C2 +30 more	Deletion	not provided	GPathogenic
Select item 687391	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	ACBD7, ADARB2 +68 more	Copy number gain	not provided	GPathogenic
Select item 687363	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	WDR37, ZMYND11 +68 more	Copy number gain	not provided	GPathogenic
Select item 685737	GRCh37/hg19 10p15.1(chr10:5544108-5956516)x3	ANKRD16, ASB13 +5 more	Copy number gain	not provided	GUncertain significance
Select item 599307	Single allele	ITIH2, ITIH5 +72 more	Deletion	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 442589	GRCh37/hg19 10p15.3-13(chr10:100026-12842179)x1	ADARB2, AKR1C1 +47 more	Copy number loss	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 395536	GRCh37/hg19 10p15.3-14(chr10:136361-8850609)x1	ADARB2, AKR1C1 +37 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 253524	GRCh37/hg19 10p15.3-14(chr10:2593113-8484746)x1	AKR1E2, GATA3 +29 more	Copy number loss	See cases	GPathogenic

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Items: 62