ClinVar for Gene (Select 23034) - ClinVar

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Links from Gene

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3316096	NM_015589.6(SAMD4A):c.926A>T (p.Glu309Val)	SAMD4A (E309V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3316095	NM_015589.6(SAMD4A):c.1762G>T (p.Gly588Cys)	SAMD4A (G500C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316094	NM_015589.6(SAMD4A):c.404C>T (p.Thr135Ile)	SAMD4A (T135I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157680	NM_015589.6(SAMD4A):c.703A>C (p.Ser235Arg)	SAMD4A (S235R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157679	NM_015589.6(SAMD4A):c.1388C>T (p.Pro463Leu)	SAMD4A (P375L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157678	NM_015589.6(SAMD4A):c.1268C>G (p.Thr423Ser)	SAMD4A (T423S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157677	NM_015589.6(SAMD4A):c.1092T>A (p.Asn364Lys)	SAMD4A (N276K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2522885	NM_015589.6(SAMD4A):c.1259C>T (p.Ser420Phe)	SAMD4A (S332F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422501	NC_000014.8:g.(?_54410919)_(55369403_?)del	BMP4, CDKN3 +5 more	Deletion	GTP cyclohydrolase I deficiency +1 more	GPathogenic
Select item 2391588	NM_015589.6(SAMD4A):c.491G>C (p.Gly164Ala)	SAMD4A (G164A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381088	NM_015589.6(SAMD4A):c.137A>G (p.Glu46Gly)	SAMD4A (E46G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372550	NM_015589.6(SAMD4A):c.192C>G (p.Ser64Arg)	LOC130055681, SAMD4A (S64R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348686	NM_015589.6(SAMD4A):c.1961G>A (p.Ser654Asn)	SAMD4A (S245N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326577	NM_015589.6(SAMD4A):c.1238C>T (p.Thr413Ile)	SAMD4A (T325I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307784	NM_015589.6(SAMD4A):c.1571T>C (p.Leu524Pro)	SAMD4A (L524P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272081	NM_015589.6(SAMD4A):c.946A>G (p.Asn316Asp)	SAMD4A (N316D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218012	NM_015589.6(SAMD4A):c.1306C>G (p.Arg436Gly)	SAMD4A (R348G +2 more)	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 1527818	GRCh37/hg19 14q22.1-22.3(chr14:53241194-55803026)	BMP4, CDKN3 +15 more	Copy number loss	not specified	GPathogenic
Select item 1455396	NC_000014.8:g.(?_54416750)_(55369403_?)del	BMP4, CDKN3 +5 more	Deletion	Microphthalmia with brain and digit anomalies +1 more	GPathogenic
Select item 1328350	NM_015589.6(SAMD4A):c.563A>G (p.Asn188Ser)	SAMD4A (N188S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 778740	NM_015589.6(SAMD4A):c.1511-6T>C	SAMD4A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 731025	NM_015589.6(SAMD4A):c.2022C>T (p.Asn674=)	SAMD4A	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 716181	NM_015589.6(SAMD4A):c.1746G>A (p.Pro582=)	SAMD4A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 711102	NM_015589.6(SAMD4A):c.195C>T (p.Pro65=)	LOC130055681, SAMD4A	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 564130	GRCh37/hg19 14q22.2(chr14:54250363-55362006)x1	GMFB, CDKN3 +5 more	Copy number loss	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 430718	NM_015589.6(SAMD4A):c.1176+4220T>C	SAMD4A	Single nucleotide variant (intron variant)	Lip and oral cavity carcinoma	Gassociation
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 152063	GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3	ABHD12B, ARF6 +394 more	Copy number gain	See cases	GLikely pathogenic
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 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57779	GRCh38/hg38 14q22.1-22.3(chr14:50591011-56286919)x1	ABHD12B, ATG14 +217 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 39