55568[Gene ID] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 149231	GRCh38/hg38 5q33.1-34(chr5:152443869-166104392)x1	ADAM19, ADRA1B +295 more	Copy number loss	See cases	GPathogenic
Select item 58390	GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)x1	ADAM19, ADRA1B +280 more	Copy number loss	See cases	GPathogenic
Select item 3280528	NM_198321.4(GALNT10):c.20G>A (p.Arg7Gln)	GALNT10, LOC129995071 (R7Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280527	NM_198321.4(GALNT10):c.71A>G (p.Asn24Ser)	GALNT10 (N24S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227947	NM_198321.4(GALNT10):c.134C>G (p.Ala45Gly)	GALNT10, LOC129995072 (A45G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280523	NM_198321.4(GALNT10):c.143C>A (p.Ala48Glu)	GALNT10, LOC129995072 (A48E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098045	NM_198321.4(GALNT10):c.163T>A (p.Ser55Thr)	GALNT10 (S55T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402751	NM_198321.4(GALNT10):c.256C>T (p.Arg86Cys)	GALNT10 (R86C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 982122	NM_198321.4(GALNT10):c.263-139G>C	GALNT10	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 982123	NM_198321.4(GALNT10):c.263-138A>T	GALNT10	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 2509618	NM_198321.4(GALNT10):c.415C>T (p.Arg139Cys)	GALNT10 (R139C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238488	NM_198321.4(GALNT10):c.488G>T (p.Arg163Leu)	GALNT10 (R163L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248457	NM_198321.4(GALNT10):c.493G>A (p.Val165Ile)	GALNT10 (V165I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341235	NM_198321.4(GALNT10):c.509A>G (p.Asn170Ser)	GALNT10 (N170S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292502	NM_198321.4(GALNT10):c.523G>C (p.Glu175Gln)	GALNT10 (E175Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301611	NM_198321.4(GALNT10):c.529G>C (p.Val177Leu)	GALNT10 (V177L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487731	NM_198321.4(GALNT10):c.551A>C (p.Asp184Ala)	GALNT10 (D184A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391686	NM_198321.4(GALNT10):c.598A>G (p.Met200Val)	GALNT10 (M200V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294568	NM_198321.4(GALNT10):c.604C>T (p.Leu202Phe)	GALNT10 (L202F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279870	NM_198321.4(GALNT10):c.640C>T (p.Arg214Trp)	GALNT10 (R214W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394680	NM_198321.4(GALNT10):c.682G>T (p.Ala228Ser)	GALNT10 (A228S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213051	NM_198321.4(GALNT10):c.806T>C (p.Ile269Thr)	GALNT10 (I269T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623232	NM_198321.4(GALNT10):c.823C>T (p.Arg275Trp)	GALNT10 (R275W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371125	NM_198321.4(GALNT10):c.854G>A (p.Arg285Gln)	GALNT10 (R285Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098047	NM_198321.4(GALNT10):c.886C>T (p.Arg296Trp)	GALNT10 (R296W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098048	NM_198321.4(GALNT10):c.899C>T (p.Pro300Leu)	GALNT10 (P300L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098044	NM_198321.4(GALNT10):c.1076G>A (p.Arg359His)	GALNT10, SAP30L-AS1 (R359H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3344106	NM_198321.4(GALNT10):c.1201T>G (p.Tyr401Asp)	SAP30L-AS1, GALNT10 (Y401D)	Single nucleotide variant (missense variant)	GALNT10-related disorder	GUncertain significance
Select item 3280520	NM_198321.4(GALNT10):c.1204G>A (p.Ala402Thr)	GALNT10, SAP30L-AS1 (A402T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044264	NM_198321.4(GALNT10):c.1356C>T (p.Pro452=)	GALNT10, SAP30L-AS1	Single nucleotide variant (synonymous variant)	GALNT10-related disorder	GLikely benign
Select item 2345173	NM_198321.4(GALNT10):c.1357G>A (p.Val453Met)	GALNT10, SAP30L-AS1 (V453M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722370	NM_198321.4(GALNT10):c.1391G>A (p.Arg464Gln)	GALNT10, SAP30L-AS1 (R464Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3280521	NM_198321.4(GALNT10):c.1465G>A (p.Val489Ile)	GALNT10, SAP30L-AS1 (V489I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2283209	NM_198321.4(GALNT10):c.1469G>C (p.Arg490Pro)	GALNT10, SAP30L-AS1 (R490P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549348	NM_198321.4(GALNT10):c.1475G>A (p.Arg492His)	GALNT10, SAP30L-AS1 (R492H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220735	NM_198321.4(GALNT10):c.1535G>A (p.Arg512Gln)	GALNT10, SAP30L-AS1 (R512Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602371	NM_198321.4(GALNT10):c.1576G>A (p.Ala526Thr)	GALNT10, SAP30L-AS1 (A526T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280519	NM_198321.4(GALNT10):c.1601C>T (p.Thr534Met)	GALNT10, SAP30L-AS1 (T534M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776083	NM_198321.4(GALNT10):c.1626G>A (p.Lys542=)	GALNT10, SAP30L-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3280526	NM_198321.4(GALNT10):c.1636C>A (p.Leu546Met)	GALNT10, SAP30L-AS1 (L546M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280525	NM_198321.4(GALNT10):c.1649G>T (p.Arg550Leu)	GALNT10, SAP30L-AS1 (R550L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479386	NM_198321.4(GALNT10):c.1669C>T (p.His557Tyr)	GALNT10, SAP30L-AS1 (H557Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098046	NM_198321.4(GALNT10):c.1753C>G (p.Gln585Glu)	GALNT10, SAP30L-AS1 (Q585E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400194	NM_198321.4(GALNT10):c.1774A>G (p.Thr592Ala)	GALNT10, SAP30L-AS1 (T592A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280524	NM_198321.4(GALNT10):c.1793A>G (p.Glu598Gly)	GALNT10, SAP30L-AS1 (E598G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287837	NM_198321.4(GALNT10):c.1802A>G (p.Asn601Ser)	GALNT10, SAP30L-AS1 (N601S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1807966	GRCh37/hg19 5q33.2(chr5:153030768-153594725)x1	FAM114A2, GALNT10 +2 more	Copy number loss	not provided	GUncertain significance
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 686948	GRCh37/hg19 5q33.2-33.3(chr5:153785664-156189369)x1	CNOT8, FAXDC2 +8 more	Copy number loss	not provided	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	AFF4, C5orf46 +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

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Items: 59