GALNT14[gene] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806176, LOC126806177 +1047 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933242, LOC129933243 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 2308444	NM_024572.4(GALNT14):c.1616A>G (p.Glu539Gly)	GALNT14 (E539G +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2217035	NM_024572.4(GALNT14):c.1603G>T (p.Val535Phe)	GALNT14 (V515F +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2477118	NM_024572.4(GALNT14):c.1600G>A (p.Val534Ile)	GALNT14 (V534I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3049237	NM_024572.4(GALNT14):c.1599C>G (p.Ile533Met)	GALNT14 (I498M +3 more)	Single nucleotide variant (missense variant +1 more)	GALNT14-related condition	GUncertain significance
Select item 2318660	NM_024572.4(GALNT14):c.1570G>A (p.Gly524Ser)	GALNT14 (G504S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2392995	NM_024572.4(GALNT14):c.1555G>C (p.Asp519His)	GALNT14 (D519H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 788391	NM_024572.4(GALNT14):c.1494C>T (p.Asp498=)	GALNT14 (T422I)	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2340268	NM_024572.4(GALNT14):c.1465G>A (p.Val489Ile)	GALNT14 (V494I +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2389691	NM_024572.4(GALNT14):c.1456G>A (p.Ala486Thr)	GALNT14 (A451T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2314911	NM_024572.4(GALNT14):c.1367A>G (p.Asp456Gly)	GALNT14 (D436G +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2509433	NM_024572.4(GALNT14):c.1280G>A (p.Arg427Lys)	GALNT14 (R432K +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2569088	NM_024572.4(GALNT14):c.1276C>G (p.Gln426Glu)	GALNT14 (Q406E +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 190462	NM_024572.4(GALNT14):c.1273C>T (p.Arg425Ter)	GALNT14 (R425* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2604963	NM_024572.4(GALNT14):c.1186C>T (p.Arg396Cys)	GALNT14 (R401C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2276836	NM_024572.4(GALNT14):c.1147G>A (p.Gly383Arg)	GALNT14 (G348R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486603	NM_024572.4(GALNT14):c.1114G>T (p.Ala372Ser)	GALNT14 (A372S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324648	NM_024572.4(GALNT14):c.1063A>G (p.Thr355Ala)	GALNT14 (T335A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333075	NM_024572.4(GALNT14):c.1049C>T (p.Thr350Met)	GALNT14 (T355M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510562	NM_024572.4(GALNT14):c.1007G>A (p.Arg336Gln)	GALNT14 (R301Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3045099	NM_024572.4(GALNT14):c.976G>A (p.Val326Ile)	GALNT14 (V291I +3 more)	Single nucleotide variant (missense variant)	GALNT14-related condition	GLikely benign
Select item 2373399	NM_024572.4(GALNT14):c.796G>A (p.Ala266Thr)	GALNT14 (A231T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296086	NM_024572.4(GALNT14):c.632C>T (p.Pro211Leu)	GALNT14 (P216L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 777990	NM_024572.4(GALNT14):c.594C>T (p.Leu198=)	GALNT14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2521535	NM_024572.4(GALNT14):c.580A>T (p.Thr194Ser)	GALNT14 (T174S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454928	NM_024572.4(GALNT14):c.547C>T (p.Arg183Trp)	GALNT14 (R148W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 782736	NM_024572.4(GALNT14):c.533-10C>T	GALNT14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2254715	NM_024572.4(GALNT14):c.472G>A (p.Asp158Asn)	GALNT14 (D138N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605677	NM_024572.4(GALNT14):c.436A>G (p.Ile146Val)	GALNT14 (I111V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598942	NM_024572.4(GALNT14):c.431G>A (p.Arg144Gln)	GALNT14 (R144Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2344646	NM_024572.4(GALNT14):c.377C>T (p.Thr126Met)	GALNT14 (T126M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367892	NM_024572.4(GALNT14):c.317A>C (p.Tyr106Ser)	GALNT14 (Y71S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317486	NM_024572.4(GALNT14):c.300A>T (p.Arg100Ser)	GALNT14 (R65S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 559582	Single allele	GALNT14	Deletion	Intestinal malrotation	GUncertain significance
Select item 2206072	NM_024572.4(GALNT14):c.239A>G (p.Asn80Ser)	GALNT14 (N60S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2617991	NM_024572.4(GALNT14):c.209G>A (p.Gly70Asp)	GALNT14 (G70D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 788392	NM_024572.4(GALNT14):c.205G>A (p.Val69Ile)	GALNT14 (V69I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2344934	NM_024572.4(GALNT14):c.202C>T (p.Arg68Cys)	GALNT14 (R68C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2456189	NM_024572.4(GALNT14):c.179G>A (p.Arg60Gln)	GALNT14 (R25Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2218041	NM_024572.4(GALNT14):c.139G>A (p.Ala47Thr)	GALNT14 (A12T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2482416	NM_024572.4(GALNT14):c.14C>G (p.Thr5Ser)	GALNT14 (T5S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2270381	NM_024572.4(GALNT14):c.5G>C (p.Arg2Pro)	GALNT14 (R2P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3062647	GRCh37/hg19 2p23.1-21(chr2:30814984-42798684)x1	ARHGEF33, ATL2 +52 more	Copy number loss	not specified	GPathogenic
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
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 1527803	GRCh37/hg19 2p23.2-21(chr2:29899368-42441440)	ALK, ARHGEF33 +52 more	Copy number loss	not specified	GPathogenic
Select item 1340919	GRCh37/hg19 2p23.1(chr2:31093404-31343975)x3	GALNT14	Copy number gain	not provided	GUncertain significance
Select item 1340275	GRCh37/hg19 2p23.1(chr2:30878949-31608905)x3	CAPN13, CAPN14 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1220534	GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3	OTOF, OXER1 +131 more	Copy number gain	See cases	GPathogenic
Select item 1176757	GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3	GALNT14, GAREM2 +131 more	Copy number gain	not provided	GLikely pathogenic
Select item 814228	GRCh37/hg19 2p23.1(chr2:31274044-31549757)x3	GALNT14, CAPN14 +1 more	Copy number gain	not provided	GUncertain significance
Select item 687905	GRCh37/hg19 2p23.1(chr2:31281703-31789508)x1	CAPN14, EHD3 +3 more	Copy number loss	not provided	GUncertain significance
Select item 687302	GRCh37/hg19 2p23.2-22.2(chr2:29940473-36813297)x1	ALK, BIRC6 +21 more	Copy number loss	not provided	GPathogenic
Select item 562660	GRCh37/hg19 2p23.2-22.3(chr2:29240004-32380876)x1	SPAST, ALK +14 more	Copy number loss	not provided	GPathogenic
Select item 547174	inv(2)(p21p23.2)	RASGRP3, HNRNPLL +52 more	Inversion	Endometrial carcinoma	GLikely pathogenic
Select item 487484	t(2;2)(p23;p21)(hg19 chr2:g.42552694::ochr2:g.29446394)	ALK, ARHGEF33 +52 more	Inversion	Small cell lung carcinoma	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 402127	GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3	ABCG5, ABCG8 +139 more	Copy number gain	See cases	GPathogenic
Select item 394466	GRCh37/hg19 2p23.2-21(chr2:28069882-43543420)x3	ALK, ARHGEF33 +70 more	Copy number gain	See cases	GPathogenic
Select item 253814	GRCh37/hg19 2p23.1(chr2:30371106-31490282)x3	CAPN13, GALNT14 +5 more	Copy number gain	See cases	GUncertain significance

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Items: 65