18275[HGNC] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	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 148370	GRCh38/hg38 3q21.3(chr3:126797420-128946623)x1	ABTB1, ACAD9 +124 more	Copy number loss	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 3132857	NM_172027.3(ABTB1):c.94C>T (p.Arg32Trp)	ABTB1 (R32W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343322	NM_172027.3(ABTB1):c.98A>T (p.Asp33Val)	ABTB1 (D33V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358217	NM_172027.3(ABTB1):c.113C>T (p.Thr38Ile)	ABTB1 (T38I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468300	NM_172027.3(ABTB1):c.150G>T (p.Glu50Asp)	ABTB1 (E50D)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2390457	NM_172027.3(ABTB1):c.157C>T (p.Leu53Phe)	ABTB1 (L53F)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2279750	NM_172027.3(ABTB1):c.163C>T (p.Leu55Phe)	ABTB1 (L55F)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2385192	NM_172027.3(ABTB1):c.233G>A (p.Ser78Asn)	ABTB1 (S78N)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2611478	NM_172027.3(ABTB1):c.243C>G (p.Ile81Met)	ABTB1 (I81M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2468569	NM_172027.3(ABTB1):c.248G>A (p.Arg83Gln)	ABTB1 (R83Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2211740	NM_172027.3(ABTB1):c.257G>A (p.Arg86His)	ABTB1 (R86H)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3132792	NM_172027.3(ABTB1):c.277G>T (p.Ala93Ser)	ABTB1 (A93S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3132794	NM_172027.3(ABTB1):c.307G>A (p.Asp103Asn)	ABTB1 (D103N)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2610619	NM_172027.3(ABTB1):c.335G>A (p.Gly112Asp)	ABTB1 (G112D)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2226681	NM_172027.3(ABTB1):c.341A>G (p.His114Arg)	ABTB1 (H114R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3132801	NM_172027.3(ABTB1):c.380G>A (p.Arg127Gln)	ABTB1 (R127Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2320156	NM_172027.3(ABTB1):c.388C>T (p.Arg130Cys)	ABTB1 (R130C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3258256	NM_172027.3(ABTB1):c.407G>A (p.Arg136His)	ABTB1 (R136H)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3258314	NM_172027.3(ABTB1):c.436A>G (p.Thr146Ala)	ABTB1 (T4A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522603	NM_172027.3(ABTB1):c.469A>G (p.Arg157Gly)	ABTB1 (R15G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620313	NM_172027.3(ABTB1):c.487C>G (p.Pro163Ala)	ABTB1 (P21A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281753	NM_172027.3(ABTB1):c.502G>T (p.Ala168Ser)	ABTB1 (A168S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258413	NM_172027.3(ABTB1):c.529C>T (p.Arg177Cys)	ABTB1 (R177C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621674	NM_172027.3(ABTB1):c.544G>A (p.Val182Ile)	ABTB1 (V182I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217259	NM_172027.3(ABTB1):c.581A>G (p.Gln194Arg)	ABTB1 (Q52R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132821	NM_172027.3(ABTB1):c.604A>G (p.Ser202Gly)	ABTB1 (S60G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289037	NM_172027.3(ABTB1):c.613G>A (p.Glu205Lys)	ABTB1 (E63K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132832	NM_172027.3(ABTB1):c.630G>C (p.Lys210Asn)	ABTB1 (K210N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132835	NM_172027.3(ABTB1):c.646G>C (p.Ala216Pro)	ABTB1 (A74P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132837	NM_172027.3(ABTB1):c.698C>T (p.Ala233Val)	ABTB1 (A233V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258193	NM_172027.3(ABTB1):c.712C>T (p.Arg238Trp)	ABTB1 (R238W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132843	NM_172027.3(ABTB1):c.736G>A (p.Asp246Asn)	ABTB1 (D104N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352561	NM_172027.3(ABTB1):c.885C>G (p.Asp295Glu)	ABTB1 (D295E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286271	NM_172027.3(ABTB1):c.889T>C (p.Phe297Leu)	ABTB1 (F297L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132850	NM_172027.3(ABTB1):c.924C>A (p.Ser308Arg)	ABTB1 (S166R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601281	NM_172027.3(ABTB1):c.926A>G (p.Glu309Gly)	ABTB1 (E309G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258722	NM_172027.3(ABTB1):c.930G>C (p.Glu310Asp)	ABTB1 (E168D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529073	NM_172027.3(ABTB1):c.943G>A (p.Gly315Arg)	ABTB1 (G315R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316477	NM_172027.3(ABTB1):c.979C>G (p.Pro327Ala)	ABTB1 (P185A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387783	NM_172027.3(ABTB1):c.982G>A (p.Asp328Asn)	ABTB1 (D328N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383735	NM_172027.3(ABTB1):c.985G>A (p.Val329Ile)	ABTB1 (V329I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2261364	NM_172027.3(ABTB1):c.1034C>G (p.Ser345Cys)	ABTB1 (S345C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363046	NM_172027.3(ABTB1):c.1063G>A (p.Val355Ile)	ABTB1 (V213I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2215862	NM_172027.3(ABTB1):c.1066G>A (p.Ala356Thr)	ABTB1 (A214T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465057	NM_172027.3(ABTB1):c.1121A>G (p.Gln374Arg)	ABTB1 (Q374R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258619	NM_172027.3(ABTB1):c.1193A>G (p.Asp398Gly)	ABTB1 (D256G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220237	NM_172027.3(ABTB1):c.1252G>A (p.Val418Met)	ABTB1 (V276M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476182	NM_172027.3(ABTB1):c.1294C>G (p.Gln432Glu)	ABTB1 (Q290E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311371	NM_172027.3(ABTB1):c.1331G>A (p.Arg444His)	ABTB1 (R444H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258513	NM_172027.3(ABTB1):c.1365C>A (p.Ser455Arg)	ABTB1 (S455R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329897	NM_172027.3(ABTB1):c.1372G>A (p.Glu458Lys)	ABTB1 (E316K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132772	NM_172027.3(ABTB1):c.1387C>T (p.Arg463Cys)	ABTB1 (R321C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351904	NM_172027.3(ABTB1):c.1388G>A (p.Arg463His)	ABTB1 (R321H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062736	GRCh37/hg19 3q21.2-21.3(chr3:124119718-127457671)x1	ABTB1, ALDH1L1 +26 more	Copy number loss	not specified	GUncertain significance
Select item 2425851	NC_000003.11:g.(?_126707437)_(127783900_?)del	ABTB1, KBTBD12 +7 more	Deletion	not provided	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 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 1183989	Single allele	ABTB1, ADCY5 +69 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
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

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Items: 67