SHISA9[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 545184	Single allele	BCAR4, CPPED1 +85 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 148522	GRCh38/hg38 16p13.13-13.11(chr16:11952467-15186199)x1	BFAR, CPPED1 +113 more	Copy number loss	See cases	GLikely pathogenic
Select item 58701	GRCh38/hg38 16p13.13-13.11(chr16:11967831-15162888)x1	BFAR, CPPED1 +110 more	Copy number loss	See cases	GPathogenic
Select item 149026	GRCh38/hg38 16p13.12(chr16:12641872-13439605)x1	CPPED1, LOC112296188 +14 more	Copy number loss	See cases	GLikely benign
Select item 2288888	NM_001145204.3(SHISA9):c.85C>A (p.His29Asn)	SHISA9 (H29N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534553	NM_001145204.3(SHISA9):c.115T>G (p.Leu39Val)	SHISA9 (L39V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534554	NM_001145204.3(SHISA9):c.118C>G (p.Leu40Val)	SHISA9 (L40V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2514478	NM_001145204.3(SHISA9):c.185A>G (p.Asp62Gly)	SHISA9 (D62G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289875	NM_001145204.3(SHISA9):c.205C>G (p.Pro69Ala)	SHISA9 (P69A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561351	NM_001145204.3(SHISA9):c.282C>G (p.Asp94Glu)	SHISA9 (D94E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378103	NM_001145204.3(SHISA9):c.326C>T (p.Thr109Met)	SHISA9 (T109M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318305	NM_001145204.3(SHISA9):c.361A>T (p.Thr121Ser)	SHISA9 (T121S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277867	NM_001145204.3(SHISA9):c.406G>A (p.Ala136Thr)	SHISA9 (A136T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612397	NM_001145204.3(SHISA9):c.590A>T (p.Gln197Leu)	SHISA9 (Q197L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161755	NM_001145204.3(SHISA9):c.592G>A (p.Gly198Ser)	SHISA9 (G198S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161756	NM_001145204.3(SHISA9):c.610C>A (p.His204Asn)	SHISA9 (H204N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249763	NM_001145204.3(SHISA9):c.633C>G (p.Ile211Met)	SHISA9 (I211M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495380	NM_001145204.3(SHISA9):c.634G>A (p.Val212Ile)	SHISA9 (V212I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318309	NM_001145204.3(SHISA9):c.643G>A (p.Val215Ile)	SHISA9 (V215I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281300	NM_001145204.3(SHISA9):c.721A>G (p.Thr241Ala)	SHISA9 (T241A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594741	NM_001145204.3(SHISA9):c.776A>G (p.Gln259Arg)	SHISA9 (Q259R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458720	NM_001145204.3(SHISA9):c.875C>T (p.Ser292Leu)	SHISA9 (S292L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598314	NM_001145204.3(SHISA9):c.923C>G (p.Thr308Ser)	SHISA9 (T308S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2280821	NM_001145204.3(SHISA9):c.927G>C (p.Lys309Asn)	SHISA9 (K309N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470199	NM_001145204.3(SHISA9):c.932G>C (p.Arg311Pro)	SHISA9 (R311P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161753	NM_001145204.3(SHISA9):c.1020C>A (p.His340Gln)	SHISA9 (H340Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271381	NM_001145204.3(SHISA9):c.1027G>A (p.Ala343Thr)	SHISA9 (A343T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610514	NM_001145204.3(SHISA9):c.1069C>T (p.Pro357Ser)	SHISA9 (P357S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161754	NM_001145204.3(SHISA9):c.1091C>T (p.Ser364Phe)	SHISA9 (S364F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318306	NM_001145204.3(SHISA9):c.1172C>G (p.Thr391Arg)	SHISA9 (T391R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318307	NM_001145204.3(SHISA9):c.1270G>A (p.Val424Ile)	SHISA9 (V424I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1526502	GRCh37/hg19 16p13.13-13.12(chr16:11364838-13592668)	SNN, SNX29 +13 more	Copy number gain	not specified	GUncertain significance
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 688492	GRCh37/hg19 16p13.12(chr16:13108953-14168353)x3	ERCC4, MRTFB +1 more	Copy number gain	not provided	GUncertain significance
Select item 685894	GRCh37/hg19 16p13.12(chr16:12983422-13647595)x3	SHISA9	Copy number gain	not provided	GUncertain significance
Select item 564274	GRCh37/hg19 16p13.13-13.12(chr16:12007434-14781381)x1	BFAR, CPPED1 +10 more	Copy number loss	not provided	GUncertain significance
Select item 561979	GRCh37/hg19 16p13.13-13.12(chr16:12389767-13081111)x3	SHISA9, SNX29 +1 more	Copy number gain	not provided	GUncertain significance
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221511	GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3	AMDHD2, ANKS3 +202 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 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic

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Items: 52