6563[HGNC] - ClinVar

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

Search results

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 152063	GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3	ABHD12B, ARF6 +394 more	Copy number gain	See cases	GLikely pathogenic
Select item 57779	GRCh38/hg38 14q22.1-22.3(chr14:50591011-56286919)x1	ABHD12B, ATG14 +217 more	Copy number loss	See cases	GPathogenic
Select item 146623	GRCh38/hg38 14q22.1-22.3(chr14:51544846-55320598)x1	BMP4, CDKN3 +147 more	Copy number loss	See cases	GPathogenic
Select item 3061843	GRCh38/hg38 14q22.2-22.3(chr14:53949639-56297420)x1	LOC130055670, LOC130055671 +89 more	Copy number loss	Dystonia 5	GPathogenic
Select item 2644251	NM_002306.4(LGALS3):c.18G>A (p.Ser6=)	LGALS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 708578	NM_002306.4(LGALS3):c.18+7G>A	LGALS3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 727001	NM_002306.4(LGALS3):c.24T>C (p.His8=)	LGALS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 712322	NM_002306.4(LGALS3):c.30G>A (p.Ala10=)	LGALS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2644252	NM_002306.4(LGALS3):c.72C>T (p.Gly24=)	LGALS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2375630	NM_002306.4(LGALS3):c.89C>G (p.Pro30Arg)	LGALS3 (P30R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 776843	NM_002306.4(LGALS3):c.294C>T (p.Thr98=)	LGALS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3118453	NM_002306.4(LGALS3):c.320A>G (p.Tyr107Cys)	LGALS3 (Y107C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371267	NM_002306.4(LGALS3):c.386G>A (p.Arg129His)	LGALS3 (R143H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407655	NM_002306.4(LGALS3):c.422A>G (p.Asn141Ser)	LGALS3 (N155S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245504	NM_002306.4(LGALS3):c.485G>A (p.Arg162His)	LGALS3 (R162H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 758680	NM_002306.4(LGALS3):c.498C>T (p.Asn166=)	LGALS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2309904	NM_002306.4(LGALS3):c.545G>A (p.Gly182Glu)	LGALS3 (G196E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 768654	NM_002306.4(LGALS3):c.548G>A (p.Arg183Lys)	LGALS3 (R197K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3290513	NM_002306.4(LGALS3):c.576T>G (p.Phe192Leu)	LGALS3 (F192L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347836	NM_002306.4(LGALS3):c.671G>A (p.Arg224Gln)	LGALS3 (R238Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3338471	GRCh37/hg19 14q22.2-22.3(chr14:54866611-57272174)x1	ATG14, CDKN3 +16 more	Copy number loss	Syndromic microphthalmia type 5	GLikely pathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
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 1527818	GRCh37/hg19 14q22.1-22.3(chr14:53241194-55803026)	BMP4, CDKN3 +15 more	Copy number loss	not specified	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 564132	GRCh37/hg19 14q22.2-22.3(chr14:54530302-55812050)x3	GCH1, LGALS3 +10 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 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

Search results

Items: 30