"Ambry Genetics"[submitter] AND "GALNT5"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 72