ClinVar for Gene (Select 79719) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3132124	NM_024666.5(AAGAB):c.917T>C (p.Ile306Thr)	AAGAB (I306T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131940	NM_024666.5(AAGAB):c.506A>G (p.Asn169Ser)	AAGAB (N169S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063365	GRCh37/hg19 15q22.33(chr15:67476317-67499104)x3	AAGAB, SMAD3	Copy number gain	not specified	GUncertain significance
Select item 3063357	GRCh37/hg19 15q23(chr15:67505039-67544537)x1	AAGAB	Copy number loss	not specified	GUncertain significance
Select item 3050764	NM_024666.5(AAGAB):c.362-10A>T	AAGAB	Single nucleotide variant (intron variant)	AAGAB-related disorder	GLikely benign
Select item 3033668	NM_024666.5(AAGAB):c.-10G>A	AAGAB, LOC130057363	Single nucleotide variant (5 prime UTR variant +1 more)	AAGAB-related disorder	GBenign
Select item 3026517	NM_024666.5(AAGAB):c.140G>A (p.Trp47Ter)	AAGAB (W47*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2990957	NM_024666.5(AAGAB):c.667C>T (p.Arg223Trp)	AAGAB (R114W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2894036	NM_024666.5(AAGAB):c.138C>G (p.Pro46=)	AAGAB	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2872740	NM_024666.5(AAGAB):c.759dup (p.Thr254fs)	AAGAB (T145fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2790353	NM_024666.5(AAGAB):c.220G>C (p.Ala74Pro)	AAGAB (A74P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2763265	NM_024666.5(AAGAB):c.744A>T (p.Glu248Asp)	AAGAB (E248D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2630130	NM_024666.5(AAGAB):c.50del (p.Phe17fs)	AAGAB, LOC130057363 (F17fs)	Deletion (5 prime UTR variant +2 more)	AAGAB-related disorder	GLikely pathogenic
Select item 2619724	NM_024666.5(AAGAB):c.813A>T (p.Glu271Asp)	AAGAB (E162D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601726	NM_024666.5(AAGAB):c.161A>G (p.Tyr54Cys)	AAGAB (Y54C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2547226	NM_024666.5(AAGAB):c.854A>C (p.Lys285Thr)	AAGAB (K176T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537795	NM_024666.5(AAGAB):c.326T>A (p.Val109Glu)	AAGAB (V109E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2530458	NM_024666.5(AAGAB):c.410A>G (p.Glu137Gly)	AAGAB (E28G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511830	NM_024666.5(AAGAB):c.722T>C (p.Met241Thr)	AAGAB (M132T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510172	NM_024666.5(AAGAB):c.41C>T (p.Ser14Phe)	AAGAB, LOC130057363 (S14F)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2500620	NM_024666.5(AAGAB):c.555C>A (p.Ser185Arg)	AAGAB (S185R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	BLM, BNC1 +209 more	Copy number gain	not provided	GPathogenic
Select item 2481838	NM_024666.5(AAGAB):c.343G>A (p.Asp115Asn)	AAGAB (D6N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2431961	NM_024666.5(AAGAB):c.778G>T (p.Glu260Ter)	AAGAB (E151* +1 more)	Single nucleotide variant (nonsense)	Palmoplantar keratoderma, punctate type 1A	GLikely pathogenic
Select item 2388371	NM_001031715.3(IQCH):c.28C>T (p.Pro10Ser)	AAGAB, IQCH (P10S)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2344954	NM_024666.5(AAGAB):c.100G>A (p.Val34Met)	AAGAB (V34M)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2341479	NM_024666.5(AAGAB):c.13G>A (p.Val5Ile)	AAGAB, LOC130057363 (V5I)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2339748	NM_024666.5(AAGAB):c.313T>C (p.Trp105Arg)	AAGAB (W105R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2338594	NM_001031715.3(IQCH):c.24C>G (p.His8Gln)	AAGAB, IQCH (H8Q)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2327327	NM_024666.5(AAGAB):c.701T>C (p.Val234Ala)	AAGAB (V125A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274181	NM_024666.5(AAGAB):c.212C>G (p.Ala71Gly)	AAGAB (A71G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2266269	NM_024666.5(AAGAB):c.151A>G (p.Asn51Asp)	AAGAB (N51D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2235297	NM_024666.5(AAGAB):c.921A>C (p.Glu307Asp)	AAGAB (E198D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211104	NM_024666.5(AAGAB):c.482G>A (p.Arg161Gln)	AAGAB (R52Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210974	NM_024666.5(AAGAB):c.830C>T (p.Ala277Val)	AAGAB (A168V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2155138	NM_024666.5(AAGAB):c.451+3_451+6del	AAGAB	Deletion (splice donor variant)	not provided	GPathogenic
Select item 2098821	NM_024666.5(AAGAB):c.452-27AT[3]	AAGAB	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2096600	NM_024666.5(AAGAB):c.773A>T (p.Asp258Val)	AAGAB (D149V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2002018	NM_024666.5(AAGAB):c.603T>C (p.Asp201=)	AAGAB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1990716	NM_024666.5(AAGAB):c.264+18A>G	AAGAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1975208	NM_024666.5(AAGAB):c.13G>C (p.Val5Leu)	AAGAB, LOC130057363 (V5L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1973289	NM_024666.5(AAGAB):c.361+14A>T	AAGAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1968345	NM_024666.5(AAGAB):c.693T>A (p.Asp231Glu)	AAGAB (D231E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1915261	NM_024666.5(AAGAB):c.821-13A>G	AAGAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1904118	NM_024666.5(AAGAB):c.4G>A (p.Ala2Thr)	AAGAB, LOC130057363 (A2T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1806821	NM_024666.5(AAGAB):c.29T>A (p.Val10Asp)	AAGAB, LOC130057363 (V10D)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1711385	NM_024666.5(AAGAB):c.535+4901T>A	AAGAB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1599538	NM_024666.5(AAGAB):c.9T>C (p.Ala3=)	AAGAB, LOC130057363	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1562006	NM_024666.5(AAGAB):c.116A>G (p.Asn39Ser)	AAGAB (N39S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1512687	NC_000015.9:g.(?_66161924)_(69018313_?)dup	CLN6, CORO2B +21 more	Duplication	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1510379	NM_024666.5(AAGAB):c.415G>A (p.Val139Ile)	AAGAB (V30I +1 more)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma, punctate type 1A +1 more	GUncertain significance
Select item 1463927	NM_024666.5(AAGAB):c.507T>A (p.Asn169Lys)	AAGAB (N60K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1456118	NC_000015.9:g.(?_67358493)_(67546969_?)del	AAGAB, SMAD3	Deletion	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 1375362	NM_024666.5(AAGAB):c.586A>G (p.Ser196Gly)	AAGAB (S196G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1284136	NM_024666.5(AAGAB):c.536-284T>A	AAGAB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283054	NM_024666.5(AAGAB):c.*237A>G	AAGAB	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1280017	NM_024666.5(AAGAB):c.618+18A>G	AAGAB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1279128	NM_024666.5(AAGAB):c.452-146G>A	AAGAB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264407	NM_024666.5(AAGAB):c.536-95G>A	AAGAB	Single nucleotide variant (intron variant)	Palmoplantar keratoderma, punctate type 1A +1 more	GBenign
Select item 1257765	NM_024666.5(AAGAB):c.619-37C>T	AAGAB	Single nucleotide variant (intron variant)	Palmoplantar keratoderma, punctate type 1A +1 more	GBenign
Select item 1253044	NM_024666.5(AAGAB):c.362-144G>A	AAGAB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239423	NM_024666.5(AAGAB):c.535+267G>A	AAGAB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237371	NM_024666.5(AAGAB):c.618+208G>A	AAGAB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235883	NM_001031715.3(IQCH):c.51+16C>A	AAGAB, IQCH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231574	NM_024666.5(AAGAB):c.264+33A>G	AAGAB	Single nucleotide variant (intron variant)	Palmoplantar keratoderma, punctate type 1A +1 more	GBenign
Select item 1183864	NM_024666.5(AAGAB):c.820+147dup	AAGAB	Duplication (intron variant)	not provided	GBenign
Select item 1073196	NM_024666.5(AAGAB):c.390G>A (p.Trp130Ter)	AAGAB (W130* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1069866	NC_000015.9:g.(?_67546897)_(67571850_?)del	AAGAB, IQCH	Deletion	not provided	GPathogenic
Select item 1069032	NM_024666.5(AAGAB):c.505_506dup (p.Asn169fs)	AAGAB (N169fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1028839	NM_024666.5(AAGAB):c.870+1G>T	AAGAB	Single nucleotide variant (splice donor variant)	Palmoplantar keratoderma, punctate type 1A	GLikely pathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 987192	NM_024666.5(AAGAB):c.314G>A (p.Trp105Ter)	AAGAB (W105*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 980530	GRCh37/hg19 15q23(chr15:67533571-67585461)x1	AAGAB, IQCH	Copy number loss	not provided	GLikely pathogenic
Select item 969403	NM_024666.5(AAGAB):c.1A>G (p.Met1Val)	AAGAB, LOC130057363 (M1V)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GPathogenic/Likely pathogenic
Select item 871411	NM_024666.5(AAGAB):c.674G>A (p.Gly225Asp)	AAGAB (G116D +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 815731	GRCh37/hg19 15q22.33-23(chr15:67382183-67629136)x2	AAGAB, IQCH +1 more	Copy number gain	not provided	GUncertain significance
Select item 815730	GRCh37/hg19 15q22.31-23(chr15:67172682-68053940)x1	AAGAB, C15orf61 +3 more	Copy number loss	not provided	GPathogenic
Select item 807278	NM_024666.5(AAGAB):c.554G>A (p.Ser185Asn)	AAGAB (S185N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 803103	NM_024666.5(AAGAB):c.394A>C (p.Ile132Leu)	AAGAB (I132L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 779447	NM_024666.5(AAGAB):c.114C>T (p.Ser38=)	AAGAB	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 776917	NM_024666.5(AAGAB):c.408T>C (p.Phe136=)	AAGAB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776916	NM_024666.5(AAGAB):c.682A>G (p.Asn228Asp)	AAGAB (N228D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 769885	NM_024666.5(AAGAB):c.669G>A (p.Arg223=)	AAGAB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 726116	NM_001031715.3(IQCH):c.21C>T (p.Asn7=)	AAGAB, IQCH	Single nucleotide variant (synonymous variant +3 more)	not provided	GBenign
Select item 708822	NM_024666.5(AAGAB):c.329T>A (p.Met110Lys)	AAGAB (M110K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 686983	GRCh37/hg19 15q23(chr15:67533543-67577560)x1	AAGAB, IQCH	Copy number loss	not provided	GUncertain significance
Select item 685339	GRCh37/hg19 15q22.33-23(chr15:67369118-70481307)x1	AAGAB, ANP32A +19 more	Copy number loss	not provided	GPathogenic
Select item 624539	GRCh37/hg19 15q23(chr15:67529106-67665817)x1	AAGAB, IQCH	Copy number loss	not provided	GUncertain significance
Select item 620111	NM_024666.5(AAGAB):c.61C>T (p.Gln21Ter)	AAGAB, LOC130057363 (Q21*)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GPathogenic
Select item 564212	GRCh37/hg19 15q22.31-23(chr15:66861081-69213575)x1	AAGAB, ANP32A +13 more	Copy number loss	not provided	GPathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CSK, CSNK1G1 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	TRPM7, TSPAN3 +444 more	Copy number gain	See cases	GPathogenic
Select item 374029	NM_024666.5(AAGAB):c.451+1G>T	AAGAB	Single nucleotide variant (splice donor variant)	Palmoplantar keratoderma	GLikely pathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	SLC24A1, SLC28A1 +310 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +279 more	Copy number gain	See cases	GPathogenic
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057806, LOC130057807 +1763 more	Copy number gain	See cases	GPathogenic
Select item 59379	GRCh38/hg38 15q22.33-23(chr15:67194581-69086285)x1	AAGAB, ANP32A +73 more	Copy number loss	See cases	GPathogenic

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