SIAH2[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 60121	GRCh38/hg38 3q25.1(chr3:150462960-150915627)x1	EIF2A, ERICH6 +26 more	Copy number loss	See cases	GUncertain significance
Select item 2599778	NM_005067.7(SIAH2):c.968G>A (p.Cys323Tyr)	SIAH2 (C323Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775914	NM_005067.7(SIAH2):c.855C>T (p.Asp285=)	SIAH2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 775915	NM_005067.7(SIAH2):c.846G>C (p.Ser282=)	SIAH2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2284238	NM_005067.7(SIAH2):c.785C>G (p.Ala262Gly)	SIAH2 (A262G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318439	NM_005067.7(SIAH2):c.722G>C (p.Gly241Ala)	SIAH2 (G241A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290662	NM_005067.7(SIAH2):c.455C>T (p.Thr152Met)	SIAH2 (T152M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162051	NM_005067.7(SIAH2):c.229C>T (p.Leu77Phe)	SIAH2, SIAH2-AS1 (L77F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341509	NM_005067.7(SIAH2):c.224C>T (p.Thr75Ile)	SIAH2, SIAH2-AS1 (T75I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318440	NM_005067.7(SIAH2):c.188G>T (p.Gly63Val)	SIAH2, SIAH2-AS1 (G63V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215027	NM_005067.7(SIAH2):c.130G>A (p.Gly44Ser)	SIAH2, SIAH2-AS1 (G44S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278748	NM_005067.7(SIAH2):c.94C>T (p.Pro32Ser)	SIAH2, SIAH2-AS1 (P32S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343497	NM_005067.7(SIAH2):c.80C>G (p.Pro27Arg)	SIAH2, SIAH2-AS1 (P27R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534559	NM_005067.7(SIAH2):c.47G>A (p.Ser16Asn)	SIAH2, SIAH2-AS1 (S16N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485625	NM_005067.7(SIAH2):c.41C>A (p.Pro14His)	SIAH2, SIAH2-AS1 (P14H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235034	NM_005067.7(SIAH2):c.35A>G (p.Asn12Ser)	SIAH2, SIAH2-AS1 (N12S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162052	NM_005067.7(SIAH2):c.31G>T (p.Ala11Ser)	SIAH2, SIAH2-AS1 (A11S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216592	NM_005067.7(SIAH2):c.19A>C (p.Thr7Pro)	SIAH2, SIAH2-AS1 (T7P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1527043	GRCh37/hg19 3q24-25.33(chr3:145486960-160504834)	AADAC, AADACL2 +75 more	Copy number gain	not specified	GPathogenic
Select item 1459543	NC_000003.11:g.(?_148447967)_(151176497_?)del	TM4SF18, TM4SF4 +28 more	Deletion	Glycogen storage disease XV +1 more	GPathogenic
Select item 1330165	GRCh37/hg19 3q23-25.32(chr3:142729607-157921084)x3	AADAC, SLC33A1 +63 more	Copy number gain	Brachycephaly +2 more	GPathogenic
Select item 1328449	GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1	PTX3, SCHIP1 +83 more	Copy number loss	not provided	GPathogenic
Select item 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	PLOD2, PLS1 +115 more	Copy number gain	Global developmental delay	GPathogenic
Select item 929388	GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3	AADAC, AADACL2 +115 more	Copy number gain	See cases	GPathogenic
Select item 814487	GRCh37/hg19 3q25.1-25.2(chr3:149404255-152786331)x1	GPR171, IGSF10 +23 more	Copy number loss	not provided	GPathogenic
Select item 442527	GRCh37/hg19 3q25.1-25.2(chr3:150352753-153522663)x1	AADAC, AADACL2 +16 more	Copy number loss	See cases	GLikely pathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 395230	GRCh37/hg19 3q24-25.2(chr3:148425748-153220169)x1	AADAC, AADACL2 +35 more	Copy number loss	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic

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Items: 35