ClinVar for Gene (Select 90288) - ClinVar

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Links from Gene

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3274602	NM_207307.3(EFCAB12):c.1355T>A (p.Leu452Gln)	EFCAB12 (L452Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274601	NM_207307.3(EFCAB12):c.35T>G (p.Phe12Cys)	EFCAB12 (F12C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274599	NM_207307.3(EFCAB12):c.1069T>C (p.Cys357Arg)	EFCAB12 (C357R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274598	NM_207307.3(EFCAB12):c.590G>T (p.Arg197Leu)	EFCAB12 (R197L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274597	NM_207307.3(EFCAB12):c.1042A>G (p.Ile348Val)	EFCAB12 (I348V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274596	NM_207307.3(EFCAB12):c.1573C>T (p.Arg525Trp)	EFCAB12 (R525W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274595	NM_207307.3(EFCAB12):c.1006C>T (p.Arg336Trp)	EFCAB12 (R336W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274594	NM_207307.3(EFCAB12):c.935C>T (p.Thr312Met)	EFCAB12 (T312M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274593	NM_207307.3(EFCAB12):c.968G>A (p.Arg323Gln)	EFCAB12 (R323Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274592	NM_207307.3(EFCAB12):c.91G>A (p.Val31Ile)	EFCAB12 (V31I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087405	NM_207307.3(EFCAB12):c.785A>G (p.Tyr262Cys)	EFCAB12 (Y262C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087404	NM_207307.3(EFCAB12):c.338G>A (p.Arg113Gln)	EFCAB12 (R113Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087403	NM_207307.3(EFCAB12):c.173G>A (p.Arg58Gln)	EFCAB12 (R58Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087402	NM_207307.3(EFCAB12):c.169C>T (p.Arg57Trp)	EFCAB12 (R57W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087401	NM_207307.3(EFCAB12):c.1082G>A (p.Arg361His)	EFCAB12 (R361H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609910	NM_207307.3(EFCAB12):c.718A>G (p.Ile240Val)	EFCAB12 (I240V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2606297	NM_207307.3(EFCAB12):c.352T>C (p.Ser118Pro)	EFCAB12 (S118P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599218	NM_207307.3(EFCAB12):c.1307G>A (p.Arg436Gln)	EFCAB12 (R436Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594661	NM_207307.3(EFCAB12):c.337C>T (p.Arg113Trp)	EFCAB12 (R113W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579705	NM_207307.3(EFCAB12):c.39G>C (p.Leu13Phe)	EFCAB12 (L13F)	Single nucleotide variant (missense variant)	Autism	GUncertain significance
Select item 2541349	NM_207307.3(EFCAB12):c.107C>G (p.Pro36Arg)	EFCAB12 (P36R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530692	NM_207307.3(EFCAB12):c.1688A>G (p.Tyr563Cys)	EFCAB12 (Y563C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519940	NM_207307.3(EFCAB12):c.398C>T (p.Thr133Met)	EFCAB12 (T133M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478361	NM_207307.3(EFCAB12):c.1076T>C (p.Leu359Pro)	EFCAB12 (L359P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424798	NC_000003.11:g.(?_126707437)_(130720194_?)dup	ABTB1, ACAD9 +38 more	Duplication	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 2406032	NM_207307.3(EFCAB12):c.14A>G (p.Tyr5Cys)	EFCAB12 (Y5C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398930	NM_207307.3(EFCAB12):c.488A>G (p.Lys163Arg)	EFCAB12 (K163R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380005	NM_207307.3(EFCAB12):c.1151T>C (p.Ile384Thr)	EFCAB12 (I384T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358761	NM_207307.3(EFCAB12):c.623T>C (p.Val208Ala)	EFCAB12 (V208A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355373	NM_207307.3(EFCAB12):c.668C>T (p.Ala223Val)	EFCAB12 (A223V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353811	NM_207307.3(EFCAB12):c.919A>G (p.Lys307Glu)	EFCAB12 (K307E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340531	NM_207307.3(EFCAB12):c.563C>T (p.Ser188Leu)	EFCAB12 (S188L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335587	NM_207307.3(EFCAB12):c.1265G>A (p.Gly422Glu)	EFCAB12 (G422E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323578	NM_207307.3(EFCAB12):c.1520C>T (p.Pro507Leu)	EFCAB12 (P507L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291223	NM_207307.3(EFCAB12):c.501G>T (p.Arg167Ser)	EFCAB12 (R167S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287660	NM_207307.3(EFCAB12):c.242C>T (p.Pro81Leu)	EFCAB12 (P81L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237540	NM_207307.3(EFCAB12):c.1625C>T (p.Ala542Val)	EFCAB12 (A542V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212387	NM_207307.3(EFCAB12):c.151C>T (p.Arg51Cys)	EFCAB12 (R51C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	ABTB1, ACAD11 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1183991	Single allele	ABTB1, ACAD9 +59 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 1183990	Single allele	ACAD11, ACAD9 +61 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 830616	NC_000003.12:g.(?_129170453)_(129551340_?)dup	CNBP, COPG1 +7 more	Duplication	not provided	GUncertain significance
Select item 562815	GRCh37/hg19 3q21.3-22.1(chr3:128660985-129811200)x1	ALG1L2, CFAP92 +17 more	Copy number loss	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 154720	GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1	LOC129937518, LOC129937519 +248 more	Copy number loss	See cases	GLikely pathogenic
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 50