ClinVar for Gene (Select 201895) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3166563	NM_174921.3(SMIM14):c.71A>G (p.Asn24Ser)	SMIM14 (N24S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166562	NM_174921.3(SMIM14):c.50A>G (p.His17Arg)	SMIM14 (H17R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2498965	GRCh37/hg19 4p14(chr4:39245868-39700010)x3	KLB, LIAS +6 more	Copy number gain	not provided	GUncertain significance
Select item 2368426	NM_174921.3(SMIM14):c.230G>A (p.Gly77Glu)	SMIM14, UGDH-AS1 (G77E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322189	NM_174921.3(SMIM14):c.274G>T (p.Asp92Tyr)	SMIM14, UGDH-AS1 (D92Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221991	NM_174921.3(SMIM14):c.127C>T (p.Pro43Ser)	SMIM14, UGDH-AS1 (P43S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 1411128	NC_000004.11:g.(?_38765721)_(41750627_?)dup	APBB2, CHRNA9 +22 more	Duplication	Lipoic acid synthetase deficiency	GUncertain significance
Select item 980663	GRCh37/hg19 4p14(chr4:39116340-40293329)x3	WDR19, UBE2K +10 more	Copy number gain	not provided	GUncertain significance
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 688875	GRCh37/hg19 4p14(chr4:39433497-39565064)x3	KLB, LIAS +3 more	Copy number gain	not provided	GUncertain significance
Select item 685006	GRCh37/hg19 4p14(chr4:39423077-39573377)x3	KLB, LIAS +3 more	Copy number gain	not provided	GUncertain significance
Select item 562874	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	GABRA2, GABRA4 +226 more	Copy number gain	not provided	GPathogenic
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	HTRA3, HTT +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 253503	GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 253447	GRCh37/hg19 4p14-11(chr4:38532827-49064044)x3	CHRNA9, CWH43 +54 more	Copy number gain	See cases	GPathogenic
Select item 148977	GRCh38/hg38 4p14-12(chr4:39444586-46117146)x3	APBB2, ATP8A1 +160 more	Copy number gain	See cases	GUncertain significance
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 57857	GRCh38/hg38 4p14(chr4:39571714-40297938)x3	LOC123477730, LOC126807038 +36 more	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 27