ClinVar for Gene (Select 348378) - ClinVar

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

Links from Gene

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3318316	NM_001042693.3(SHISAL2A):c.163A>G (p.Ser55Gly)	SHISAL2A (S55G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318315	NM_001042693.3(SHISAL2A):c.569C>T (p.Pro190Leu)	SHISAL2A (P190L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318314	NM_001042693.3(SHISAL2A):c.49C>T (p.Arg17Cys)	SHISAL2A (R17C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318313	NM_001042693.3(SHISAL2A):c.448C>G (p.Gln150Glu)	SHISAL2A (Q150E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318312	NM_001042693.3(SHISAL2A):c.334G>T (p.Val112Phe)	SHISAL2A (V112F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318311	NM_001042693.3(SHISAL2A):c.76G>A (p.Gly26Ser)	SHISAL2A (G26S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161775	NM_001042693.3(SHISAL2A):c.52G>A (p.Gly18Ser)	SHISAL2A (G18S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161774	NM_001042693.3(SHISAL2A):c.503C>T (p.Thr168Ile)	SHISAL2A (T168I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161773	NM_001042693.3(SHISAL2A):c.487A>C (p.Met163Leu)	SHISAL2A (M163L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161772	NM_001042693.3(SHISAL2A):c.446G>A (p.Gly149Glu)	SHISAL2A (G149E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3161771	NM_001042693.3(SHISAL2A):c.425C>T (p.Pro142Leu)	SHISAL2A (P142L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161770	NM_001042693.3(SHISAL2A):c.353G>T (p.Gly118Val)	SHISAL2A (G118V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161769	NM_001042693.3(SHISAL2A):c.208G>A (p.Val70Ile)	SHISAL2A (V70I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3161768	NM_001042693.3(SHISAL2A):c.177G>T (p.Trp59Cys)	SHISAL2A (W59C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161767	NM_001042693.3(SHISAL2A):c.157G>A (p.Glu53Lys)	SHISAL2A (E53K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161766	NM_001042693.3(SHISAL2A):c.142A>G (p.Ser48Gly)	SHISAL2A (S48G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062755	GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3	ACOT11, AGBL4 +72 more	Copy number gain	not specified	GLikely pathogenic
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2590831	NM_001042693.3(SHISAL2A):c.466C>T (p.Arg156Cys)	SHISAL2A (R156C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533055	NM_001042693.3(SHISAL2A):c.65C>T (p.Pro22Leu)	SHISAL2A (P22L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524845	NM_001042693.3(SHISAL2A):c.451G>C (p.Ala151Pro)	SHISAL2A (A151P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471503	NM_001042693.3(SHISAL2A):c.232T>C (p.Phe78Leu)	SHISAL2A (F78L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809606	GRCh38/hg38 1p33-32.3(chr1:50441439-50959811)x2	AGBL4, AGBL4-AS1 +119 more	Copy number loss	Orofacial cleft 13	Gassociation
Select item 1047872	GRCh37/hg19 1p32.3-32.2(chr1:51941877-56688514)	CYB5RL, EPS15 +49 more	Copy number loss	Abnormality of the kidney +1 more	GPathogenic
Select item 814082	GRCh37/hg19 1p32.3(chr1:53039602-53734721)x3	SLC1A7, MAGOH +11 more	Copy number gain	not provided	GLikely benign
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565097	GRCh37/hg19 1p32.3(chr1:53120178-53330882)x1	ZYG11A, SHISAL2A +2 more	Copy number loss	not provided	GLikely benign
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394094	GRCh37/hg19 1p32.3(chr1:51729573-55164001)x1	LRP8, LRRC42 +42 more	Copy number loss	See cases	GPathogenic
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	LOC129388541, LOC129388542 +570 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

Links from Gene

Items: 31