ClinVar for Gene (Select 386627) - ClinVar

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Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3518439	NM_198321.4(GALNT10):c.1343A>G (p.Lys448Arg)	GALNT10, SAP30L-AS1 (K448R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3518437	NM_198321.4(GALNT10):c.1620C>A (p.Ser540Arg)	GALNT10, SAP30L-AS1 (S540R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3518429	NM_198321.4(GALNT10):c.1421C>T (p.Thr474Ile)	GALNT10, SAP30L-AS1 (T474I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3518428	NM_198321.4(GALNT10):c.1223G>A (p.Arg408His)	GALNT10, SAP30L-AS1 (R408H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3518427	NM_198321.4(GALNT10):c.1469G>A (p.Arg490Gln)	GALNT10, SAP30L-AS1 (R490Q)	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 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 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 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 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 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 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 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 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 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 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 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 2400194	NM_198321.4(GALNT10):c.1774A>G (p.Thr592Ala)	SAP30L-AS1, GALNT10 (T592A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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 776083	NM_198321.4(GALNT10):c.1626G>A (p.Lys542=)	GALNT10, SAP30L-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 149231	GRCh38/hg38 5q33.1-34(chr5:152443869-166104392)x1	ADAM19, ADRA1B +295 more	Copy number loss	See cases	GPathogenic
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 58390	GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)x1	ADAM19, ADRA1B +280 more	Copy number loss	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 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 30