6563[HGNC] - ClinVar

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Items: 29

	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 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

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Items: 29