ClinVar for Gene (Select 51327) - ClinVar

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Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3102460	NM_016633.4(AHSP):c.136A>G (p.Asn46Asp)	AHSP (N46D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056941	NM_016633.4(AHSP):c.224A>T (p.Asn75Ile)	AHSP (N75I)	Single nucleotide variant (missense variant)	AHSP-related disorder	GBenign
Select item 3056330	NM_016633.4(AHSP):c.231G>T (p.Leu77=)	AHSP	Single nucleotide variant (synonymous variant)	AHSP-related disorder	GBenign
Select item 3033540	NM_016633.4(AHSP):c.138C>T (p.Asn46=)	AHSP	Single nucleotide variant (synonymous variant)	AHSP-related disorder	GLikely benign
Select item 2646484	NM_016633.4(AHSP):c.61C>T (p.Leu21=)	AHSP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2531156	NM_016633.4(AHSP):c.94G>C (p.Val32Leu)	AHSP (V32L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527659	NM_016633.4(AHSP):c.260A>T (p.Asp87Val)	AHSP (D87V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266221	NM_016633.4(AHSP):c.191A>G (p.Asp64Gly)	AHSP (D64G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 979443	GRCh37/hg19 16p11.2(chr16:30350747-31905898)x3	STX4, DCTPP1 +52 more	Copy number gain	not provided	GUncertain significance
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 789834	NM_016633.4(AHSP):c.298C>A (p.Pro100Thr)	AHSP (P100T)	Single nucleotide variant (missense variant)	not provided	GBenign
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 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	DPEP2, DPEP3 +811 more	Copy number gain	See cases	GPathogenic
Select item 395300	GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1	AHSP, ALDOA +99 more	Copy number loss	See cases	GLikely pathogenic
Select item 375693	maternal UPD(16p)	ITGAM, NPIPA3 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221519	GRCh37/hg19 16p11.2(chr16:31154186-31926800)x3	AHSP, ARMC5 +15 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 144329	GRCh38/hg38 16p11.2-11.1(chr16:30691912-36160463)x3	AHSP, ARMC5 +136 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 21