SHISA2[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 153502	GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3	LOC126861730, LOC126861731 +489 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 59861	GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3	LOC130009490, LOC130009491 +416 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC132090185, LOC132090186 +621 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 3318281	NM_001007538.2(SHISA2):c.763G>A (p.Asp255Asn)	SHISA2 (D255N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305468	NM_001007538.2(SHISA2):c.733C>T (p.Pro245Ser)	SHISA2 (P245S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467720	NM_001007538.2(SHISA2):c.587G>A (p.Arg196Gln)	SHISA2 (R196Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161697	NM_001007538.2(SHISA2):c.583G>A (p.Ala195Thr)	SHISA2 (A195T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161696	NM_001007538.2(SHISA2):c.536G>A (p.Arg179His)	SHISA2 (R179H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351148	NM_001007538.2(SHISA2):c.521G>A (p.Arg174Gln)	SHISA2 (R174Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161695	NM_001007538.2(SHISA2):c.475C>T (p.Arg159Cys)	SHISA2 (R159C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161694	NM_001007538.2(SHISA2):c.422G>C (p.Arg141Thr)	SHISA2 (R141T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533239	NM_001007538.2(SHISA2):c.398C>T (p.Ser133Phe)	SHISA2 (S133F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318279	NM_001007538.2(SHISA2):c.370G>A (p.Val124Met)	SHISA2 (V124M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320270	NM_001007538.2(SHISA2):c.338C>T (p.Pro113Leu)	SHISA2 (P113L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465213	NM_001007538.2(SHISA2):c.302G>C (p.Arg101Pro)	SHISA2 (R101P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304498	NM_001007538.2(SHISA2):c.284G>T (p.Gly95Val)	SHISA2 (G95V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550302	NM_001007538.2(SHISA2):c.269A>G (p.Asn90Ser)	SHISA2 (N90S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459311	NM_001007538.2(SHISA2):c.169C>G (p.Arg57Gly)	SHISA2 (R57G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161693	NM_001007538.2(SHISA2):c.140T>C (p.Val47Ala)	SHISA2 (V47A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252887	NM_001007538.2(SHISA2):c.134A>G (p.Gln45Arg)	SHISA2 (Q45R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318280	NM_001007538.2(SHISA2):c.86C>T (p.Ala29Val)	SHISA2 (A29V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223978	NM_001007538.2(SHISA2):c.13C>A (p.Arg5Ser)	SHISA2 (R5S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346248	NM_001007538.2(SHISA2):c.8G>C (p.Gly3Ala)	SHISA2 (G3A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3148850	GRCh37/hg19 13q11-13.3(chr13:19436287-36278224)x3	CDX2, AMER2 +82 more	Copy number gain	not provided	GUncertain significance
Select item 3063305	GRCh37/hg19 13q12.12-12.2(chr13:23329180-28663294)x3	AMER2, ATP12A +33 more	Copy number gain	not specified	GUncertain significance
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	B3GLCT, HS6ST3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	ABCC4, ABHD13 +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	VPS36, VWA8 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341191	GRCh37/hg19 13q12.13(chr13:25967889-27105105)x3	ATP8A2, CDK8 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 1340399	GRCh37/hg19 13q12.13(chr13:26423441-26738780)x1	ATP8A2, SHISA2	Copy number loss	not provided	GUncertain significance
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	DACH1, IRS2 +332 more	Copy number gain	See cases	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	CENPJ, CHAMP1 +332 more	Copy number gain	See cases	GPathogenic
Select item 979362	GRCh37/hg19 13q12.12-12.3(chr13:23775339-30534624)x3	AMER2, GTF3A +40 more	Copy number gain	not provided	GLikely pathogenic
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 686932	GRCh37/hg19 13q12.11-12.13(chr13:20069228-27474401)x3	AMER2, ATP12A +40 more	Copy number gain	not provided	GPathogenic
Select item 564083	GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3	NUDT15, NUFIP1 +211 more	Copy number gain	not provided	GPathogenic
Select item 523170	GRCh37/hg19 13q12.12-13.2(chr13:24080918-34361992)x1	CDK8, CDX2 +56 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443856	GRCh37/hg19 13q12.12-12.13(chr13:23552966-27027909)x1	AMER2, ATP12A +18 more	Copy number loss	See cases	GLikely pathogenic
Select item 441765	GRCh37/hg19 13q11-34(chr13:19436287-115107733)	FGF9, FLT1 +332 more	Copy number gain	See cases	GPathogenic
Select item 441764	GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 394462	GRCh37/hg19 13q12.11-34(chr13:19571503-115092510)	CRYL1, CSNK1A1L +332 more	Copy number gain	See cases	GPathogenic
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	GTF2F2, LINC00567 +332 more	Copy number gain	See cases	GPathogenic

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Items: 56