GALR3[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57629	GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1	ANKRD54, APOL1 +293 more	Copy number loss	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 153362	GRCh38/hg38 22q13.1(chr22:37447222-39103680)x1	ANKRD54, APOBEC3A +177 more	Copy number loss	See cases	GPathogenic
Select item 57632	GRCh38/hg38 22q13.1(chr22:37721777-38886664)x1	ANKRD54, BAIAP2L2 +122 more	Copy number loss	See cases	GPathogenic
Select item 57943	GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3	LOC130067459, LOC130067460 +273 more	Copy number gain	See cases	GPathogenic
Select item 545010	GRCh38/hg38 22q13.1(chr22:37805546-37983784)x1	ANKRD54, C22orf23 +17 more	Copy number loss	Waardenburg syndrome type 4C	GPathogenic
Select item 2392826	NM_003614.2(GALR3):c.23C>T (p.Ser8Leu)	GALR3 (S8L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373530	NM_003614.2(GALR3):c.52G>A (p.Val18Met)	GALR3 (V18M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098273	NM_003614.2(GALR3):c.58G>C (p.Val20Leu)	GALR3 (V20L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280677	NM_003614.2(GALR3):c.133C>G (p.Pro45Ala)	GALR3 (P45A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653126	NM_003614.2(GALR3):c.157C>G (p.Pro53Ala)	GALR3 (P53A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2284868	NM_003614.2(GALR3):c.161G>A (p.Gly54Asp)	GALR3 (G54D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299651	NM_003614.2(GALR3):c.209G>A (p.Cys70Tyr)	GALR3 (C70Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287610	NM_003614.2(GALR3):c.251C>T (p.Thr84Met)	GALR3 (T84M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280675	NM_003614.2(GALR3):c.277C>G (p.Leu93Val)	GALR3 (L93V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465128	NM_003614.2(GALR3):c.395C>T (p.Ala132Val)	GALR3 (A132V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292799	NM_003614.2(GALR3):c.529G>C (p.Glu177Gln)	GALR3 (E177Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259060	NM_003614.2(GALR3):c.536C>G (p.Ala179Gly)	GALR3 (A179G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265213	NM_003614.2(GALR3):c.659C>T (p.Ala220Val)	GALR3 (A220V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343261	NM_003614.2(GALR3):c.674C>A (p.Ala225Glu)	GALR3 (A225E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604015	NM_003614.2(GALR3):c.683G>A (p.Arg228Lys)	GALR3 (R228K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280676	NM_003614.2(GALR3):c.746G>A (p.Gly249Asp)	GALR3 (G249D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280678	NM_003614.2(GALR3):c.802G>A (p.Ala268Thr)	GALR3 (A268T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459076	NM_003614.2(GALR3):c.875C>G (p.Ala292Gly)	GALR3 (A292G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323019	NM_003614.2(GALR3):c.898G>T (p.Ala300Ser)	GALR3 (A300S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287662	NM_003614.2(GALR3):c.947C>G (p.Ala316Gly)	GALR3 (A316G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511754	NM_003614.2(GALR3):c.977C>T (p.Ala326Val)	GALR3 (A326V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098272	NM_003614.2(GALR3):c.1040G>T (p.Gly347Val)	GALR3 (G347V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424101	NC_000022.10:g.(?_37154355)_(39148633_?)del	ANKRD54, BAIAP2L2 +50 more	Deletion	Infantile neuroaxonal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 2423540	NC_000022.10:g.(?_38097373)_(39306081_?)del	ANKRD54, BAIAP2L2 +29 more	Deletion	not provided	GPathogenic
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	ACO2, ADSL +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1526736	GRCh37/hg19 22q13.1(chr22:38116341-38369048)	ANKRD54, C22orf23 +9 more	Copy number loss	not specified	GLikely pathogenic
Select item 995941	GRCh37/hg19 22q13.1(chr22:38155164-38541997)	ANKRD54, C22orf23 +13 more	Copy number loss	Waardenburg syndrome type 2E	GPathogenic
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816564	GRCh37/hg19 22q13.1(chr22:38002218-38973070)x1	SH3BP1, CSNK1E +25 more	Copy number loss	not provided	GPathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 443342	GRCh37/hg19 22q12.3-13.1(chr22:35674826-39466442)x3	ANKRD54, APOBEC3A +76 more	Copy number gain	See cases	GLikely pathogenic
Select item 442777	GRCh37/hg19 22q13.1(chr22:37866631-39054815)x1	ANKRD54, BAIAP2L2 +31 more	Copy number loss	See cases	GPathogenic
Select item 442145	GRCh37/hg19 22q12.3-13.1(chr22:36877226-38548989)x1	ANKRD54, BAIAP2L2 +41 more	Copy number loss	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic

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Items: 48