30652[HGNC] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	SAMD15, SEL1L +503 more	Copy number loss	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 149273	GRCh38/hg38 14q31.1-31.3(chr14:79330723-85885507)x3	CEP128, DIO2 +58 more	Copy number gain	See cases	GLikely pathogenic
Select item 2518531	NM_001394390.1(STON2):c.2784+97G>C	STON2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2218165	NM_001394390.1(STON2):c.2784+91A>G	STON2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2557096	NM_001394390.1(STON2):c.2784+70T>C	STON2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3323377	NM_001394390.1(STON2):c.2784+50C>T	STON2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2234909	NM_001394390.1(STON2):c.2719A>G (p.Ile907Val)	STON2 (I850V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279101	NM_001394390.1(STON2):c.2657A>G (p.Asn886Ser)	STON2 (N886S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2383246	NM_001394390.1(STON2):c.2542A>C (p.Ile848Leu)	STON2 (I791L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224869	NM_001394390.1(STON2):c.2426C>A (p.Ser809Tyr)	STON2 (S752Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300979	NM_001394390.1(STON2):c.2423A>C (p.Lys808Thr)	STON2 (K751T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306351	NM_001394390.1(STON2):c.2420A>G (p.Glu807Gly)	STON2 (E807G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601384	NM_001394390.1(STON2):c.2404G>C (p.Glu802Gln)	STON2 (E802Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171505	NM_001394390.1(STON2):c.2401A>G (p.Arg801Gly)	STON2 (R744G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458982	NM_001394390.1(STON2):c.2377A>G (p.Ser793Gly)	STON2 (S736G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213716	NM_001394390.1(STON2):c.2362C>T (p.Arg788Cys)	STON2 (R788C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171504	NM_001394390.1(STON2):c.2329C>G (p.Leu777Val)	STON2 (L777V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171503	NM_001394390.1(STON2):c.2314G>A (p.Ala772Thr)	STON2 (A715T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219709	NM_001394390.1(STON2):c.2311T>G (p.Ser771Ala)	STON2 (S771A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171502	NM_001394390.1(STON2):c.2285G>C (p.Ser762Thr)	STON2 (S705T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171501	NM_001394390.1(STON2):c.2246C>T (p.Thr749Met)	STON2 (T749M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270418	NM_001394390.1(STON2):c.2177C>T (p.Ala726Val)	STON2 (A726V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469415	NM_001394390.1(STON2):c.2144A>G (p.Asn715Ser)	STON2 (N658S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3171500	NM_001394390.1(STON2):c.2065A>G (p.Met689Val)	STON2 (M632V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400838	NM_001394390.1(STON2):c.1964G>A (p.Arg655Gln)	STON2 (R655Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234558	NM_001394390.1(STON2):c.1938G>T (p.Gln646His)	STON2 (Q589H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213116	NM_001394390.1(STON2):c.1727C>G (p.Ala576Gly)	STON2 (A519G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323378	NM_001394390.1(STON2):c.1676A>T (p.Asp559Val)	STON2 (D559V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171498	NM_001394390.1(STON2):c.1625C>T (p.Pro542Leu)	STON2 (P485L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644432	NM_001394390.1(STON2):c.1521C>T (p.Phe507=)	STON2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2364305	NM_001394390.1(STON2):c.1459A>G (p.Met487Val)	STON2 (M430V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323379	NM_001394390.1(STON2):c.1448A>G (p.Asp483Gly)	STON2 (D426G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329893	NM_001394390.1(STON2):c.1427C>T (p.Ser476Leu)	STON2 (S476L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507687	NM_001394390.1(STON2):c.1418C>T (p.Pro473Leu)	STON2 (P416L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370486	NM_001394390.1(STON2):c.1355A>G (p.His452Arg)	STON2 (H452R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463848	NM_001394390.1(STON2):c.1261C>G (p.Gln421Glu)	STON2 (Q364E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323376	NM_001394390.1(STON2):c.1196C>T (p.Ser399Phe)	STON2 (S342F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171497	NM_001394390.1(STON2):c.1192C>T (p.Arg398Cys)	STON2 (R341C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411092	NM_001394390.1(STON2):c.1126A>G (p.Thr376Ala)	STON2 (T319A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269579	NM_001394390.1(STON2):c.1094C>T (p.Pro365Leu)	STON2 (P365L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171510	NM_001394390.1(STON2):c.1036G>A (p.Val346Ile)	STON2 (V346I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275736	NM_001394390.1(STON2):c.1003C>T (p.Arg335Cys)	STON2 (R278C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171509	NM_001394390.1(STON2):c.955A>G (p.Ile319Val)	STON2 (I319V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171508	NM_001394390.1(STON2):c.890T>C (p.Val297Ala)	STON2 (V240A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605734	NM_001394390.1(STON2):c.768T>G (p.Asp256Glu)	STON2 (D199E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171507	NM_001394390.1(STON2):c.434C>T (p.Pro145Leu)	STON2 (P145L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171506	NM_001394390.1(STON2):c.295A>G (p.Ile99Val)	STON2 (I99V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619953	NM_001394390.1(STON2):c.293C>A (p.Ala98Asp)	STON2 (A98D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276286	NM_001394390.1(STON2):c.277C>T (p.Pro93Ser)	STON2 (P93S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242109	NM_001394390.1(STON2):c.268C>G (p.Gln90Glu)	STON2 (Q90E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171499	NM_001394390.1(STON2):c.159C>A (p.Asn53Lys)	STON2 (N53K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368106	NM_001394390.1(STON2):c.95C>T (p.Thr32Met)	STON2 (T32M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644433	NM_001394390.1(STON2):c.88+7A>G	STON2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3148944	GRCh37/hg19 14q24.3-31.3(chr14:79068206-87464634)x1	CEP128, DIO2 +5 more	Copy number loss	not provided	GUncertain significance
Select item 3063337	GRCh37/hg19 14q31.1-31.3(chr14:79782316-86358101)x3	CEP128, DIO2 +5 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 1807735	GRCh37/hg19 14q31.1-32.2(chr14:81593708-97059276)x3	OTUB2, PAPOLA +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 688173	GRCh37/hg19 14q31.1(chr14:81787322-81847259)x1	STON2	Copy number loss	not provided	GUncertain significance
Select item 686971	GRCh37/hg19 14q31.1(chr14:81838457-81914661)x3	STON2	Copy number gain	not provided	GUncertain significance
Select item 686858	GRCh37/hg19 14q24.3-32.11(chr14:77274990-89803137)x1	ADCK1, AHSA1 +35 more	Copy number loss	not provided	GPathogenic
Select item 564128	GRCh37/hg19 14q31.1(chr14:81831187-82613787)x3	STON2, SEL1L	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	ABCD4, ACOT1 +261 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic

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Items: 69