ClinVar for Gene (Select 323) - ClinVar

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Links from Gene

Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3301746	NM_004307.2(APBB2):c.1862C>T (p.Ser621Phe)	APBB2 (S598F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301735	NM_004307.2(APBB2):c.424C>G (p.Pro142Ala)	APBB2 (P142A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127699	NM_004307.2(APBB2):c.575C>A (p.Pro192Gln)	APBB2 (P192Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127698	NM_004307.2(APBB2):c.437C>T (p.Ser146Leu)	APBB2 (S146L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127697	NM_004307.2(APBB2):c.230C>T (p.Ala77Val)	APBB2 (A77V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127696	NM_004307.2(APBB2):c.2173C>T (p.Pro725Ser)	APBB2 (P702S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127695	NM_004307.2(APBB2):c.215T>C (p.Leu72Pro)	APBB2 (L72P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127694	NM_004307.2(APBB2):c.212C>T (p.Ala71Val)	APBB2 (A71V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127693	NM_004307.2(APBB2):c.2090A>T (p.Glu697Val)	APBB2 (E675V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127692	NM_004307.2(APBB2):c.1927G>A (p.Glu643Lys)	APBB2 (E620K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127691	NM_004307.2(APBB2):c.1777G>A (p.Val593Met)	APBB2 (V44M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127690	NM_004307.2(APBB2):c.1714C>G (p.Leu572Val)	APBB2 (L23V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127689	NM_004307.2(APBB2):c.1489G>A (p.Val497Ile)	APBB2 (V497I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127688	NM_004307.2(APBB2):c.137A>G (p.Asn46Ser)	APBB2 (N46S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127687	NM_004307.2(APBB2):c.1312G>A (p.Gly438Ser)	APBB2 (G416S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 2621159	NM_004307.2(APBB2):c.904G>A (p.Asp302Asn)	APBB2 (D302N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621158	NM_004307.2(APBB2):c.415G>A (p.Glu139Lys)	APBB2 (E139K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612605	NM_004307.2(APBB2):c.640C>T (p.Pro214Ser)	APBB2 (P214S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609585	NM_004307.2(APBB2):c.1499G>A (p.Arg500His)	APBB2 (R499H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604640	NM_004307.2(APBB2):c.964G>A (p.Val322Ile)	APBB2 (V321I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592962	NM_004307.2(APBB2):c.245C>T (p.Ser82Leu)	APBB2 (S82L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2570359	NM_004307.2(APBB2):c.2231C>T (p.Ser744Phe)	APBB2 (S744F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528330	NM_004307.2(APBB2):c.235A>G (p.Met79Val)	APBB2 (M79V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526963	NM_004307.2(APBB2):c.2167C>G (p.Pro723Ala)	APBB2 (P723A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506554	GRCh37/hg19 4p14-13(chr4:40337485-41941400)	APBB2, CHRNA9 +6 more	Copy number loss	not provided	GPathogenic
Select item 2469396	NM_004307.2(APBB2):c.182G>A (p.Ser61Asn)	APBB2 (S61N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351525	NM_004307.2(APBB2):c.323G>A (p.Arg108His)	APBB2 (R108H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343413	NM_004307.2(APBB2):c.836C>T (p.Ala279Val)	APBB2 (A279V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340472	NM_004307.2(APBB2):c.988G>C (p.Gly330Arg)	APBB2 (G330R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337856	NM_004307.2(APBB2):c.272G>C (p.Gly91Ala)	APBB2 (G91A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336769	NM_004307.2(APBB2):c.2180C>T (p.Ala727Val)	APBB2 (A727V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299394	NM_004307.2(APBB2):c.645G>T (p.Gln215His)	APBB2 (Q215H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287582	NM_004307.2(APBB2):c.75C>G (p.Asp25Glu)	APBB2 (D25E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279288	NM_004307.2(APBB2):c.991T>C (p.Ser331Pro)	APBB2 (S331P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263776	NM_004307.2(APBB2):c.377C>T (p.Ala126Val)	APBB2 (A126V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262897	NM_004307.2(APBB2):c.1297G>A (p.Glu433Lys)	APBB2 (E432K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254956	NM_004307.2(APBB2):c.1144T>A (p.Leu382Ile)	APBB2 (L382I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249430	NM_004307.2(APBB2):c.934C>G (p.Pro312Ala)	APBB2 (P312A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244096	NM_004307.2(APBB2):c.1639T>C (p.Ser547Pro)	APBB2 (S546P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236872	NM_004307.2(APBB2):c.159A>G (p.Ile53Met)	APBB2 (I53M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231746	NM_004307.2(APBB2):c.1699A>G (p.Arg567Gly)	APBB2 (R545G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229763	NM_004307.2(APBB2):c.791C>T (p.Thr264Met)	APBB2 (T264M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225902	NM_004307.2(APBB2):c.2177C>T (p.Pro726Leu)	APBB2 (P703L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214864	NM_004307.2(APBB2):c.1372A>C (p.Ile458Leu)	APBB2 (I458L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212929	NM_004307.2(APBB2):c.548A>G (p.His183Arg)	APBB2 (H183R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208622	NM_004307.2(APBB2):c.1306G>A (p.Ala436Thr)	APBB2 (A436T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207878	NM_004307.2(APBB2):c.76G>A (p.Val26Ile)	APBB2 (V26I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 1411128	NC_000004.11:g.(?_38765721)_(41750627_?)dup	APBB2, CHRNA9 +22 more	Duplication	Lipoic acid synthetase deficiency	GUncertain significance
Select item 1340296	GRCh37/hg19 4p14(chr4:41065487-41121238)x1	APBB2	Copy number loss	not provided	GUncertain significance
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 767953	NM_004307.2(APBB2):c.20-6C>T	APBB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 562874	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	GABRA2, GABRA4 +226 more	Copy number gain	not provided	GPathogenic
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	HTRA3, HTT +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 253503	GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 253447	GRCh37/hg19 4p14-11(chr4:38532827-49064044)x3	CHRNA9, CWH43 +54 more	Copy number gain	See cases	GPathogenic
Select item 148977	GRCh38/hg38 4p14-12(chr4:39444586-46117146)x3	APBB2, ATP8A1 +160 more	Copy number gain	See cases	GUncertain significance
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 145612	GRCh38/hg38 4p14-11(chr4:40496476-49579850)x3	LOC126807045, LOC126807046 +171 more	Copy number gain	See cases	GPathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 67