16497[HGNC] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 149077	GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1	LOC129937630, LOC129937631 +320 more	Copy number loss	See cases	GPathogenic
Select item 57835	GRCh38/hg38 3q23-24(chr3:141751960-148246189)x1	ATP1B3, ATR +107 more	Copy number loss	See cases	GPathogenic
Select item 146560	GRCh38/hg38 3q23-24(chr3:142780798-146233927)x1	CHST2, DIPK2A +49 more	Copy number loss	See cases	GUncertain significance
Select item 57836	GRCh38/hg38 3q24(chr3:144319831-146552546)x1	LNCSRLR, LOC123192011 +16 more	Copy number loss	See cases	GPathogenic
Select item 148910	GRCh38/hg38 3q24(chr3:145036887-146346332)x3	LNCSRLR, LOC123192011 +7 more	Copy number gain	See cases	GUncertain significance
Select item 3215476	NM_020353.3(PLSCR4):c.814A>G (p.Ile272Val)	PLSCR4 (I167V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231676	NM_020353.3(PLSCR4):c.752C>T (p.Ser251Leu)	PLSCR4 (S146L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341731	NM_020353.3(PLSCR4):c.715A>G (p.Lys239Glu)	PLSCR4 (K134E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593137	NM_020353.3(PLSCR4):c.668C>T (p.Ala223Val)	PLSCR4 (A118V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215474	NM_020353.3(PLSCR4):c.656T>C (p.Ile219Thr)	PLSCR4 (I129T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616010	NM_020353.3(PLSCR4):c.596G>T (p.Cys199Phe)	PLSCR4 (C199F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466911	NM_020353.3(PLSCR4):c.593G>A (p.Cys198Tyr)	PLSCR4 (C198Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215473	NM_020353.3(PLSCR4):c.574C>A (p.Pro192Thr)	PLSCR4 (P192T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560173	NM_020353.3(PLSCR4):c.572G>A (p.Arg191Lys)	PLSCR4 (R191K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550843	NM_020353.3(PLSCR4):c.544A>G (p.Met182Val)	PLSCR4 (M182V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215472	NM_020353.3(PLSCR4):c.520T>G (p.Phe174Val)	PLSCR4 (F174V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215471	NM_020353.3(PLSCR4):c.403A>G (p.Thr135Ala)	PLSCR4 (T135A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334901	NM_020353.3(PLSCR4):c.365T>C (p.Ile122Thr)	PLSCR4 (I122T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615607	NM_020353.3(PLSCR4):c.316A>G (p.Met106Val)	PLSCR4 (M106V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 984408	NM_020353.3(PLSCR4):c.301C>T (p.Pro101Ser)	PLSCR4 (P101S +1 more)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder	GUncertain significance
Select item 2532706	NM_020353.3(PLSCR4):c.263A>G (p.Tyr88Cys)	PLSCR4 (Y73C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260525	NM_020353.3(PLSCR4):c.245G>T (p.Arg82Leu)	PLSCR4 (R67L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386710	NM_020353.3(PLSCR4):c.140C>T (p.Pro47Leu)	PLSCR4 (P32L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062703	GRCh37/hg19 3q24(chr3:144717495-148147770)x1	PLOD2, PLSCR1 +5 more	Copy number loss	not specified	GPathogenic
Select item 2685935	GRCh37/hg19 3q24(chr3:145914458-146145440)x3	PLSCR4	Copy number gain	not provided	GUncertain significance
Select item 2671595	Single allele	AADAC, AADACL2 +286 more	Duplication	not provided	GPathogenic
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1807626	GRCh37/hg19 3q24(chr3:145694358-146217695)x3	PLOD2, PLSCR2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1527043	GRCh37/hg19 3q24-25.33(chr3:145486960-160504834)	AADAC, AADACL2 +75 more	Copy number gain	not specified	GPathogenic
Select item 1330165	GRCh37/hg19 3q23-25.32(chr3:142729607-157921084)x3	AADAC, SLC33A1 +63 more	Copy number gain	Brachycephaly +2 more	GPathogenic
Select item 1328449	GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1	AADAC, AADACL2 +83 more	Copy number loss	not provided	GPathogenic
Select item 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	CHST2, CLRN1 +115 more	Copy number gain	Global developmental delay	GPathogenic
Select item 929388	GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3	AADAC, AADACL2 +115 more	Copy number gain	See cases	GPathogenic
Select item 814486	GRCh37/hg19 3q24-25.1(chr3:144053029-150272658)x1	WWTR1, CP +23 more	Copy number loss	not provided	GLikely pathogenic
Select item 814485	GRCh37/hg19 3q24(chr3:142909055-147190850)x1	SLC9A9, PLSCR4 +7 more	Copy number loss	not provided	GUncertain significance
Select item 625695	GRCh37/hg19 3q22.2-24(chr3:135288025-146874012)	A4GNT, ARMC8 +54 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	PTX3, MIR1224 +220 more	Copy number gain	See cases	GPathogenic

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Items: 40