ClinVar for Gene (Select 57452) - ClinVar

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

Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3280615	NM_001168368.2(GALNT16):c.1370T>C (p.Met457Thr)	GALNT16 (M457T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3280613	NM_001168368.2(GALNT16):c.680G>A (p.Arg227Gln)	GALNT16 (R227Q)	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 3098121	NM_001168368.2(GALNT16):c.997G>A (p.Gly333Ser)	GALNT16 (G333S)	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 3098119	NM_001168368.2(GALNT16):c.820C>G (p.Leu274Val)	GALNT16 (L274V)	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 3098116	NM_001168368.2(GALNT16):c.319G>A (p.Asp107Asn)	GALNT16 (D107N)	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 3098114	NM_001168368.2(GALNT16):c.224C>T (p.Ser75Leu)	GALNT16 (S75L)	Single nucleotide variant (missense variant)	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 3098112	NM_001168368.2(GALNT16):c.1639G>A (p.Ala547Thr)	GALNT16 (A547T)	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 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 3098109	NM_001168368.2(GALNT16):c.1205A>T (p.Glu402Val)	GALNT16 (E402V)	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 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
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 2619436	NM_001168368.2(GALNT16):c.207T>A (p.Asp69Glu)	GALNT16 (D69E)	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 2589311	NM_001168368.2(GALNT16):c.503C>T (p.Pro168Leu)	GALNT16 (P168L)	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 2552293	NM_001168368.2(GALNT16):c.1279G>A (p.Val427Met)	GALNT16 (V427M)	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 2511797	NM_001168368.2(GALNT16):c.194C>T (p.Ser65Leu)	GALNT16 (S65L)	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 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 2423522	NC_000014.8:g.(?_68699594)_(70654407_?)del	ACTN1, CCDC177 +13 more	Deletion	not provided	GPathogenic
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 2379309	NM_001168368.2(GALNT16):c.1196C>T (p.Thr399Met)	GALNT16 (T399M)	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 2363597	NM_001168368.2(GALNT16):c.551G>A (p.Arg184His)	GALNT16 (R184H)	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 2340447	NM_001168368.2(GALNT16):c.1139A>C (p.Gln380Pro)	GALNT16 (Q380P)	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 2339046	NM_001168368.2(GALNT16):c.1150G>A (p.Glu384Lys)	GALNT16 (E384K)	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 2317352	NM_001168368.2(GALNT16):c.719T>C (p.Ile240Thr)	GALNT16 (I240T)	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 2311186	NM_001168368.2(GALNT16):c.430A>G (p.Lys144Glu)	GALNT16 (K144E)	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 2293455	NM_001168368.2(GALNT16):c.1274T>G (p.Val425Gly)	GALNT16 (V425G)	Single nucleotide variant (missense variant)	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 2253813	NM_001168368.2(GALNT16):c.655G>A (p.Glu219Lys)	GALNT16 (E219K)	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 2210562	NM_001168368.2(GALNT16):c.1400C>T (p.Pro467Leu)	GALNT16 (P467L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	ISCA2, TMEM30B +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 443425	GRCh37/hg19 14q24.1-24.2(chr14:68035240-73568130)x1	ACTN1, ADAM20 +34 more	Copy number loss	See cases	GLikely pathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 55