SLAIN2[gene] - ClinVar

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

Search results

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	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 145612	GRCh38/hg38 4p14-11(chr4:40496476-49579850)x3	APBB2, ATP10D +171 more	Copy number gain	See cases	GPathogenic
Select item 57074	GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3	AASDH, ADGRL3 +244 more	Copy number gain	See cases	GPathogenic
Select item 58027	GRCh38/hg38 4p13-11(chr4:44577678-49081273)x3	LOC129992578, MIR8053 +81 more	Copy number gain	See cases	GPathogenic
Select item 149579	GRCh38/hg38 4p12-11(chr4:47383124-48851860)x3	ATP10D, CNGA1 +57 more	Copy number gain	See cases	GUncertain significance
Select item 2568981	NM_020846.2(SLAIN2):c.29C>T (p.Ala10Val)	SLAIN2 (A10V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519455	NM_020846.2(SLAIN2):c.109G>A (p.Ala37Thr)	SLAIN2 (A37T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594200	NM_020846.2(SLAIN2):c.112G>A (p.Val38Met)	SLAIN2 (V38M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454787	NM_020846.2(SLAIN2):c.139G>C (p.Gly47Arg)	SLAIN2 (G47R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595650	NM_020846.2(SLAIN2):c.169C>T (p.Pro57Ser)	SLAIN2 (P57S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350613	NM_020846.2(SLAIN2):c.173C>T (p.Ser58Phe)	SLAIN2 (S58F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208507	NM_020846.2(SLAIN2):c.223T>G (p.Ser75Ala)	SLAIN2 (S75A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396321	NM_020846.2(SLAIN2):c.239G>C (p.Gly80Ala)	SLAIN2 (G80A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376906	NM_020846.2(SLAIN2):c.241T>G (p.Ser81Ala)	SLAIN2 (S81A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274061	NM_020846.2(SLAIN2):c.268G>C (p.Glu90Gln)	SLAIN2 (E90Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247953	NM_020846.2(SLAIN2):c.281C>T (p.Ala94Val)	SLAIN2 (A94V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550354	NM_020846.2(SLAIN2):c.310G>T (p.Gly104Cys)	SLAIN2 (G104C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411445	NM_020846.2(SLAIN2):c.322G>C (p.Glu108Gln)	SLAIN2 (E108Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233748	NM_020846.2(SLAIN2):c.424A>T (p.Met142Leu)	SLAIN2 (M142L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472368	NM_020846.2(SLAIN2):c.434C>T (p.Ser145Leu)	SLAIN2 (S145L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456273	NM_020846.2(SLAIN2):c.539C>T (p.Ala180Val)	SLAIN2 (A180V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494049	NM_020846.2(SLAIN2):c.560A>G (p.Tyr187Cys)	SLAIN2 (Y187C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314277	NM_020846.2(SLAIN2):c.605C>T (p.Pro202Leu)	SLAIN2 (P202L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224941	NM_020846.2(SLAIN2):c.695G>C (p.Gly232Ala)	SLAIN2 (G232A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285463	NM_020846.2(SLAIN2):c.754A>G (p.Ile252Val)	SLAIN2 (I252V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239126	NM_020846.2(SLAIN2):c.829G>A (p.Asp277Asn)	SLAIN2 (D277N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 775960	NM_020846.2(SLAIN2):c.897G>A (p.Arg299=)	SLAIN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2512625	NM_020846.2(SLAIN2):c.1000G>T (p.Ala334Ser)	SLAIN2 (A334S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536705	NM_020846.2(SLAIN2):c.1055C>T (p.Pro352Leu)	SLAIN2 (P352L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274155	NM_020846.2(SLAIN2):c.1060C>T (p.Pro354Ser)	SLAIN2 (P354S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281956	NM_020846.2(SLAIN2):c.1096T>C (p.Ser366Pro)	SLAIN2 (S366P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256086	NM_020846.2(SLAIN2):c.1349A>C (p.Gln450Pro)	SLAIN2 (Q450P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385010	NM_020846.2(SLAIN2):c.1415G>A (p.Arg472Gln)	SLAIN2 (R472Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594718	NM_020846.2(SLAIN2):c.1513A>G (p.Met505Val)	SLAIN2 (M505V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2515676	NM_020846.2(SLAIN2):c.1588A>G (p.Thr530Ala)	SLAIN2 (T530A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529289	NM_020846.2(SLAIN2):c.1625C>T (p.Pro542Leu)	SLAIN2 (P542L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	TMA16, CXCL1 +537 more	Copy number gain	not provided	GPathogenic
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
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	AASDH, ABLIM2 +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	SCRG1, SDAD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	CCKAR, CWH43 +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 48