"Ambry Genetics"[submitter] AND "GALNT16"[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3280614	NM_001168368.2(GALNT16):c.100T>A (p.Ser34Thr)	GALNT16, GALNT16-AS1 (S34T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2273895	NM_001168368.2(GALNT16):c.112C>T (p.Arg38Trp)	GALNT16, GALNT16-AS1 (R38W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459205	NM_001168368.2(GALNT16):c.113G>A (p.Arg38Gln)	GALNT16, GALNT16-AS1 (R38Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3098110	NM_001168368.2(GALNT16):c.127G>T (p.Ala43Ser)	GALNT16, GALNT16-AS1 (A43S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3098113	NM_001168368.2(GALNT16):c.185G>A (p.Gly62Glu)	GALNT16 (G62E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511797	NM_001168368.2(GALNT16):c.194C>T (p.Ser65Leu)	GALNT16 (S65L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619436	NM_001168368.2(GALNT16):c.207T>A (p.Asp69Glu)	GALNT16 (D69E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098114	NM_001168368.2(GALNT16):c.224C>T (p.Ser75Leu)	GALNT16 (S75L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295265	NM_001168368.2(GALNT16):c.284A>C (p.Glu95Ala)	GALNT16 (E95A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098115	NM_001168368.2(GALNT16):c.293A>T (p.Lys98Met)	GALNT16 (K98M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246801	NM_001168368.2(GALNT16):c.307C>T (p.Arg103Trp)	GALNT16 (R103W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098116	NM_001168368.2(GALNT16):c.319G>A (p.Asp107Asn)	GALNT16 (D107N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339628	NM_001168368.2(GALNT16):c.398A>G (p.Asn133Ser)	GALNT16 (N133S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098117	NM_001168368.2(GALNT16):c.406C>T (p.Arg136Cys)	GALNT16 (R136C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311186	NM_001168368.2(GALNT16):c.430A>G (p.Lys144Glu)	GALNT16 (K144E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589311	NM_001168368.2(GALNT16):c.503C>T (p.Pro168Leu)	GALNT16 (P168L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280616	NM_001168368.2(GALNT16):c.537G>C (p.Lys179Asn)	GALNT16 (K179N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363597	NM_001168368.2(GALNT16):c.551G>A (p.Arg184His)	GALNT16 (R184H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253813	NM_001168368.2(GALNT16):c.655G>A (p.Glu219Lys)	GALNT16 (E219K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598018	NM_001168368.2(GALNT16):c.672G>T (p.Met224Ile)	GALNT16 (M224I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280613	NM_001168368.2(GALNT16):c.680G>A (p.Arg227Gln)	GALNT16 (R227Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363625	NM_001168368.2(GALNT16):c.700C>T (p.Arg234Cys)	GALNT16 (R234C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317352	NM_001168368.2(GALNT16):c.719T>C (p.Ile240Thr)	GALNT16 (I240T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098119	NM_001168368.2(GALNT16):c.820C>G (p.Leu274Val)	GALNT16 (L274V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555733	NM_001168368.2(GALNT16):c.838C>T (p.Arg280Trp)	GALNT16 (R280W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098120	NM_001168368.2(GALNT16):c.983T>C (p.Val328Ala)	GALNT16 (V328A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098121	NM_001168368.2(GALNT16):c.997G>A (p.Gly333Ser)	GALNT16 (G333S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280612	NM_001168368.2(GALNT16):c.1048C>T (p.Arg350Trp)	GALNT16 (R350W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098108	NM_001168368.2(GALNT16):c.1067C>G (p.Pro356Arg)	GALNT16 (P356R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340447	NM_001168368.2(GALNT16):c.1139A>C (p.Gln380Pro)	GALNT16 (Q380P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339046	NM_001168368.2(GALNT16):c.1150G>A (p.Glu384Lys)	GALNT16 (E384K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379309	NM_001168368.2(GALNT16):c.1196C>T (p.Thr399Met)	GALNT16 (T399M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098109	NM_001168368.2(GALNT16):c.1205A>T (p.Glu402Val)	GALNT16 (E402V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293455	NM_001168368.2(GALNT16):c.1274T>G (p.Val425Gly)	GALNT16 (V425G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326307	NM_001168368.2(GALNT16):c.1276C>T (p.Pro426Ser)	GALNT16 (P426S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552293	NM_001168368.2(GALNT16):c.1279G>A (p.Val427Met)	GALNT16 (V427M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387026	NM_001168368.2(GALNT16):c.1289C>T (p.Ala430Val)	GALNT16 (A430V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3280615	NM_001168368.2(GALNT16):c.1370T>C (p.Met457Thr)	GALNT16 (M457T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098111	NM_001168368.2(GALNT16):c.1400C>G (p.Pro467Arg)	GALNT16 (P467R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210562	NM_001168368.2(GALNT16):c.1400C>T (p.Pro467Leu)	GALNT16 (P467L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620358	NM_001168368.2(GALNT16):c.1414G>T (p.Ala472Ser)	GALNT16 (A472S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460530	NM_001168368.2(GALNT16):c.1432C>T (p.His478Tyr)	GALNT16 (H478Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316242	NM_001168368.2(GALNT16):c.1475C>T (p.Thr492Ile)	GALNT16 (T492I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349473	NM_001168368.2(GALNT16):c.1505T>C (p.Ile502Thr)	GALNT16 (I502T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551660	NM_001168368.2(GALNT16):c.1532G>A (p.Gly511Asp)	GALNT16 (G511D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098112	NM_001168368.2(GALNT16):c.1639G>A (p.Ala547Thr)	GALNT16 (A547T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 46