GALNT13[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146076	GRCh38/hg38 2q22.3-24.1(chr2:143900149-158321624)x3	ACVR1, ACVR1C +238 more	Copy number gain	See cases	GPathogenic
Select item 154515	GRCh38/hg38 2q22.3-24.1(chr2:146324191-156219125)x3	ACVR2A, ARL5A +146 more	Copy number gain	See cases	GPathogenic
Select item 60216	GRCh38/hg38 2q22.3-24.1(chr2:147251948-157856378)x1	ACVR1, ACVR1C +189 more	Copy number loss	See cases	GPathogenic
Select item 60217	GRCh38/hg38 2q22.3-23.3(chr2:147590324-153496674)x1	ACVR2A, ARL5A +119 more	Copy number loss	See cases	GPathogenic
Select item 60219	GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)x1	ACVR1, ACVR1C +333 more	Copy number loss	See cases	GPathogenic
Select item 154597	GRCh38/hg38 2q23.3-24.2(chr2:151932344-159419734)x1	ACVR1, ACVR1C +147 more	Copy number loss	See cases	GPathogenic
Select item 156807	CM000664.1:g.154163944_154199490dup	GALNT13	Duplication	Small for gestational age	Gnot provided
Select item 2231623	NM_019845.3(RPRM):c.150C>G (p.Ser50Arg)	GALNT13, RPRM (S50R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386674	NM_019845.3(RPRM):c.77C>T (p.Ala26Val)	GALNT13, RPRM (A26V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156180	NM_019845.3(RPRM):c.56G>A (p.Ser19Asn)	GALNT13, RPRM (S19N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315277	NM_019845.3(RPRM):c.34G>A (p.Ala12Thr)	GALNT13, RPRM (A12T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 154896	GRCh38/hg38 2q23.3-24.1(chr2:153609714-158185125)x1	LOC129934943, LOC129934944 +74 more	Copy number loss	See cases	GPathogenic
Select item 156808	NC_000002.12:g.153845295_154275106dup	GALNT13, LOC126806381	Duplication	Gestational diabetes mellitus uncontrolled	Gnot provided
Select item 3098069	NM_052917.4(GALNT13):c.23A>G (p.Lys8Arg)	GALNT13 (K8R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472694	NM_052917.4(GALNT13):c.28G>A (p.Val10Ile)	GALNT13 (V10I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491194	NM_052917.4(GALNT13):c.155G>A (p.Arg52Lys)	GALNT13 (R52K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098068	NM_052917.4(GALNT13):c.172G>A (p.Gly58Arg)	GALNT13 (G58R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619489	NM_052917.4(GALNT13):c.319A>G (p.Thr107Ala)	GALNT13, LOC126806381 (T107A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544601	NM_052917.4(GALNT13):c.358G>A (p.Val120Ile)	GALNT13, LOC126806381 (V120I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098070	NM_052917.4(GALNT13):c.373A>G (p.Asn125Asp)	GALNT13, LOC126806381 (N125D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611501	NM_052917.4(GALNT13):c.389C>T (p.Thr130Ile)	GALNT13, LOC126806381 (T130I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508564	NM_052917.4(GALNT13):c.508G>A (p.Val170Met)	GALNT13 (V170M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544387	NM_052917.4(GALNT13):c.568C>T (p.Arg190Cys)	GALNT13 (R190C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301930	NM_052917.4(GALNT13):c.624T>G (p.Asp208Glu)	GALNT13 (D208E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559668	NM_052917.4(GALNT13):c.841A>G (p.Arg281Gly)	GALNT13 (R281G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559669	NM_052917.4(GALNT13):c.842G>T (p.Arg281Ile)	GALNT13 (R281I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280598	NM_052917.4(GALNT13):c.919A>T (p.Thr307Ser)	GALNT13 (T126S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 149625	GRCh38/hg38 2q24.1(chr2:154282149-154674427)x3	GALNT13, GALNT13-AS1 +1 more	Copy number gain	See cases	GLikely benign
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 3098071	NM_052917.4(GALNT13):c.986G>A (p.Cys329Tyr)	GALNT13 (C148Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280597	NM_052917.4(GALNT13):c.1042G>T (p.Ala348Ser)	GALNT13 (A167S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608021	NM_052917.4(GALNT13):c.1070C>G (p.Thr357Ser)	GALNT13 (L318V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098063	NM_052917.4(GALNT13):c.1105G>A (p.Ala369Thr)	GALNT13 (A369T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 59150	GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3	ACVR1, ACVR1C +275 more	Copy number gain	See cases	GPathogenic
Select item 2305754	NM_052917.4(GALNT13):c.1270C>A (p.Pro424Thr)	GALNT13 (P424T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098064	NM_052917.4(GALNT13):c.1354A>G (p.Lys452Glu)	GALNT13 (K366E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098065	NM_052917.4(GALNT13):c.1364T>A (p.Ile455Lys)	GALNT13 (I274K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535733	NM_052917.4(GALNT13):c.1370A>T (p.Asn457Ile)	GALNT13 (N457I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098066	NM_052917.4(GALNT13):c.1465G>C (p.Gly489Arg)	GALNT13, GALNT13-AS1 (G308R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098067	NM_052917.4(GALNT13):c.1495A>G (p.Met499Val)	GALNT13, GALNT13-AS1 (M413V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526922	GRCh37/hg19 2q24.1(chr2:155257520-155391942)	GALNT13	Copy number loss	not specified	GUncertain significance
Select item 1340408	GRCh37/hg19 2q23.3-24.1(chr2:154852961-159126250)x1	ACVR1, ACVR1C +9 more	Copy number loss	not provided	GPathogenic
Select item 1340352	GRCh37/hg19 2q23.3-24.1(chr2:154328530-158759642)x1	ACVR1, ACVR1C +8 more	Copy number loss	not provided	GPathogenic
Select item 1339787	GRCh37/hg19 2q23.3-24.2(chr2:152967964-160089210)x3	ACVR1, ACVR1C +17 more	Copy number gain	not provided	Gnot provided
Select item 814329	GRCh37/hg19 2q23.3(chr2:154777615-154889520)x1	GALNT13	Copy number loss	not provided	GLikely benign
Select item 814328	GRCh37/hg19 2q23.3(chr2:154517875-154734327)x3	GALNT13	Copy number gain	not provided	GLikely benign
Select item 814314	GRCh37/hg19 2q22.3-24.1(chr2:147173792-158346266)x1	ARL6IP6, CACNB4 +25 more	Copy number loss	not provided	GPathogenic
Select item 688003	GRCh37/hg19 2q23.3-24.1(chr2:154340221-155027447)x3	GALNT13	Copy number gain	not provided	GUncertain significance
Select item 562665	GRCh37/hg19 2q23.2-23.3(chr2:150134077-154848282)x1	ARL5A, ARL6IP6 +14 more	Copy number loss	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 394900	GRCh37/hg19 2q24.1(chr2:154961717-155054710)x3	GALNT13	Copy number gain	See cases	GLikely benign

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Items: 54