GALNT5[gene] - ClinVar

Search results

Items: 99

	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 60216	GRCh38/hg38 2q22.3-24.1(chr2:147251948-157856378)x1	ACVR1, ACVR1C +189 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 154896	GRCh38/hg38 2q23.3-24.1(chr2:153609714-158185125)x1	LOC129934943, LOC129934944 +74 more	Copy number loss	See cases	GPathogenic
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 59150	GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3	ACVR1, ACVR1C +275 more	Copy number gain	See cases	GPathogenic
Select item 236378	Single allele	ACVR1, ACVR1C +61 more	Deletion	Autism spectrum disorder	GLikely pathogenic
Select item 2373781	NM_014568.3(GALNT5):c.26G>A (p.Arg9Gln)	GALNT5 (R9Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3280637	NM_014568.3(GALNT5):c.89T>A (p.Met30Lys)	GALNT5 (M30K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2546417	NM_014568.3(GALNT5):c.94G>A (p.Ala32Thr)	GALNT5 (A32T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2218669	NM_014568.3(GALNT5):c.100C>T (p.Arg34Cys)	GALNT5 (R34C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2382680	NM_014568.3(GALNT5):c.161G>A (p.Arg54Gln)	GALNT5 (R54Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3098207	NM_014568.3(GALNT5):c.197T>G (p.Ile66Ser)	GALNT5 (I66S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2279031	NM_014568.3(GALNT5):c.244G>C (p.Gly82Arg)	GALNT5 (G82R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3098212	NM_014568.3(GALNT5):c.301G>C (p.Val101Leu)	GALNT5 (V101L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2315373	NM_014568.3(GALNT5):c.323C>A (p.Thr108Asn)	GALNT5 (T108N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2394105	NM_014568.3(GALNT5):c.355G>C (p.Gly119Arg)	GALNT5 (G119R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2543264	NM_014568.3(GALNT5):c.373C>T (p.Pro125Ser)	GALNT5 (P125S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3098213	NM_014568.3(GALNT5):c.458C>T (p.Ala153Val)	GALNT5 (A153V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3098214	NM_014568.3(GALNT5):c.470A>G (p.Gln157Arg)	GALNT5 (Q157R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3098215	NM_014568.3(GALNT5):c.478C>T (p.Pro160Ser)	GALNT5 (P160S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2473688	NM_014568.3(GALNT5):c.486A>C (p.Gln162His)	GALNT5 (Q162H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2555112	NM_014568.3(GALNT5):c.494C>T (p.Ala165Val)	GALNT5 (A165V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2251929	NM_014568.3(GALNT5):c.505C>G (p.Pro169Ala)	GALNT5 (P169A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2569621	NM_014568.3(GALNT5):c.550A>G (p.Ile184Val)	GALNT5 (I184V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2563314	NM_014568.3(GALNT5):c.589C>G (p.Pro197Ala)	GALNT5 (P197A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2398472	NM_014568.3(GALNT5):c.592C>T (p.Arg198Trp)	GALNT5 (R198W)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3280634	NM_014568.3(GALNT5):c.664C>T (p.Leu222Phe)	GALNT5 (L222F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2319412	NM_014568.3(GALNT5):c.714G>C (p.Arg238Ser)	GALNT5 (R238S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2494800	NM_014568.3(GALNT5):c.769A>C (p.Lys257Gln)	GALNT5 (K257Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3098216	NM_014568.3(GALNT5):c.779C>T (p.Thr260Ile)	GALNT5 (T260I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3280632	NM_014568.3(GALNT5):c.782A>G (p.Gln261Arg)	GALNT5 (Q261R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3098217	NM_014568.3(GALNT5):c.838A>C (p.Lys280Gln)	GALNT5 (K280Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2603125	NM_014568.3(GALNT5):c.860G>A (p.Arg287His)	GALNT5 (R287H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2514264	NM_014568.3(GALNT5):c.895G>A (p.Gly299Arg)	GALNT5 (G299R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2478328	NM_014568.3(GALNT5):c.935G>A (p.Gly312Glu)	GALNT5 (G312E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3098197	NM_014568.3(GALNT5):c.1026A>C (p.Lys342Asn)	GALNT5 (K342N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3098198	NM_014568.3(GALNT5):c.1099T>A (p.Ser367Thr)	GALNT5 (S367T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2321520	NM_014568.3(GALNT5):c.1160G>A (p.Gly387Glu)	GALNT5 (G387E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3098199	NM_014568.3(GALNT5):c.1198G>A (p.Ala400Thr)	GALNT5 (A400T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2337127	NM_014568.3(GALNT5):c.1277T>C (p.Ile426Thr)	GALNT5 (I426T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3098200	NM_014568.3(GALNT5):c.1327C>T (p.Arg443Cys)	GALNT5 (R443C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2458552	NM_014568.3(GALNT5):c.1328G>A (p.Arg443His)	GALNT5 (R443H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2255239	NM_014568.3(GALNT5):c.1340T>A (p.Val447Asp)	GALNT5 (V447D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3098201	NM_014568.3(GALNT5):c.1402C>T (p.Leu468Phe)	GALNT5 (L468F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3098202	NM_014568.3(GALNT5):c.1420G>A (p.Val474Met)	GALNT5 (V474M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3098203	NM_014568.3(GALNT5):c.1463A>G (p.Glu488Gly)	GALNT5 (E18G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280628	NM_014568.3(GALNT5):c.1469T>C (p.Leu490Pro)	GALNT5 (L20P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098204	NM_014568.3(GALNT5):c.1534C>A (p.Leu512Ile)	GALNT5 (L512I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333928	NM_014568.3(GALNT5):c.1562A>G (p.Asn521Ser)	GALNT5 (N521S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308272	NM_014568.3(GALNT5):c.1579C>T (p.Leu527Phe)	GALNT5 (L527F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302825	NM_014568.3(GALNT5):c.1614C>G (p.Ser538Arg)	GALNT5 (S68R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249952	NM_014568.3(GALNT5):c.1652T>C (p.Met551Thr)	GALNT5 (M81T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262673	NM_014568.3(GALNT5):c.1682G>A (p.Arg561His)	GALNT5 (R91H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3280636	NM_014568.3(GALNT5):c.1691A>C (p.Glu564Ala)	GALNT5 (E564A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614062	NM_014568.3(GALNT5):c.1817A>G (p.Tyr606Cys)	GALNT5 (Y606C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596714	NM_014568.3(GALNT5):c.1830G>C (p.Lys610Asn)	GALNT5 (K610N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098205	NM_014568.3(GALNT5):c.1888G>A (p.Val630Met)	GALNT5 (V160M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098206	NM_014568.3(GALNT5):c.1957G>A (p.Val653Ile)	GALNT5 (V653I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618902	NM_014568.3(GALNT5):c.2015G>T (p.Gly672Val)	GALNT5 (G202V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280630	NM_014568.3(GALNT5):c.2077G>A (p.Asp693Asn)	GALNT5 (D693N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098208	NM_014568.3(GALNT5):c.2105T>G (p.Leu702Arg)	GALNT5 (L232R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280633	NM_014568.3(GALNT5):c.2159G>A (p.Arg720Gln)	GALNT5 (R720Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214126	NM_014568.3(GALNT5):c.2159G>C (p.Arg720Pro)	GALNT5 (R250P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098209	NM_014568.3(GALNT5):c.2248G>A (p.Glu750Lys)	GALNT5 (E280K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280631	NM_014568.3(GALNT5):c.2290G>A (p.Gly764Arg)	GALNT5 (G294R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547935	NM_014568.3(GALNT5):c.2295C>A (p.Asp765Glu)	GALNT5 (D295E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593806	NM_014568.3(GALNT5):c.2305G>A (p.Asp769Asn)	GALNT5 (D769N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495238	NM_014568.3(GALNT5):c.2342G>A (p.Arg781Lys)	GALNT5 (R781K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231172	NM_014568.3(GALNT5):c.2366G>A (p.Cys789Tyr)	GALNT5 (C789Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381005	NM_014568.3(GALNT5):c.2419A>G (p.Ile807Val)	GALNT5 (I807V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280638	NM_014568.3(GALNT5):c.2456T>C (p.Leu819Ser)	GALNT5 (L349S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322899	NM_014568.3(GALNT5):c.2458G>A (p.Gly820Ser)	GALNT5 (G350S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528383	NM_014568.3(GALNT5):c.2544G>T (p.Trp848Cys)	GALNT5 (W378C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098210	NM_014568.3(GALNT5):c.2550A>T (p.Arg850Ser)	GALNT5 (R380S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225695	NM_014568.3(GALNT5):c.2566G>A (p.Glu856Lys)	GALNT5 (E386K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098211	NM_014568.3(GALNT5):c.2642A>G (p.Lys881Arg)	GALNT5 (K411R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651443	NM_014568.3(GALNT5):c.2674C>T (p.Pro892Ser)	GALNT5 (P422S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2486163	NM_014568.3(GALNT5):c.2689C>T (p.His897Tyr)	GALNT5 (H427Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280635	NM_014568.3(GALNT5):c.2699T>C (p.Phe900Ser)	GALNT5 (F430S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062503	GRCh37/hg19 2q24.1-24.3(chr2:157718631-165360287)x1	CCDC148, CD302 +29 more	Copy number loss	not specified	GPathogenic
Select item 2684819	GRCh37/hg19 2q24.1(chr2:158147122-158266377)x1	ERMN, GALNT5	Copy number loss	not provided	GUncertain significance
Select item 2684808	GRCh37/hg19 2q24.1(chr2:156828817-158377885)x1	CYTIP, ERMN +3 more	Copy number loss	not provided	GPathogenic
Select item 1807678	GRCh37/hg19 2q24.1(chr2:156528912-158233672)x3	ERMN, GALNT5 +2 more	Copy number gain	not provided	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 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 980600	GRCh37/hg19 2q24.1(chr2:156696086-159450561)x1	ACVR1C, GALNT5 +8 more	Copy number loss	not provided	GLikely pathogenic
Select item 816489	GRCh37/hg19 2q24.1(chr2:157873775-158514510)x3	CYTIP, ACVR1C +2 more	Copy number gain	See cases	GUncertain significance
Select item 814332	GRCh37/hg19 2q24.1(chr2:157117939-158422574)x1	GALNT5, CYTIP +4 more	Copy number loss	not provided	GLikely pathogenic
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 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 443473	GRCh37/hg19 2q24.1-24.3(chr2:157970774-169270675)x1	ACVR1, ACVR1C +42 more	Copy number loss	See cases	GPathogenic
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 395526	GRCh37/hg19 2q24.1(chr2:158165086-158183948)x3	ERMN, GALNT5	Copy number gain	See cases	GLikely benign
Select item 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic

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Items: 99