ClinVar for Gene (Select 6799) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3323595	NM_001054.4(SULT1A2):c.565C>G (p.Leu189Val)	SULT1A2 (L189V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3323594	NM_001054.4(SULT1A2):c.731G>C (p.Arg244Pro)	SULT1A2 (R170P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3323593	NM_001054.4(SULT1A2):c.439A>G (p.Lys147Glu)	SULT1A2 (K147E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3323592	NM_001054.4(SULT1A2):c.308G>A (p.Arg103Gln)	SULT1A2 (R103Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3243421	NC_000016.9:g.(?_28488837)_(29001333_?)del	APOBR, ATP2A1 +15 more	Deletion	Brody myopathy	GPathogenic
Select item 3172049	NM_001054.4(SULT1A2):c.808G>A (p.Val270Met)	SULT1A2 (V196M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172047	NM_001054.4(SULT1A2):c.634G>A (p.Gly212Arg)	SULT1A2 (G138R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172046	NM_001054.4(SULT1A2):c.616A>G (p.Lys206Glu)	SULT1A2 (K206E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172045	NM_001054.4(SULT1A2):c.592G>A (p.Glu198Lys)	SULT1A2 (E198K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3172044	NM_001054.4(SULT1A2):c.565C>A (p.Leu189Ile)	SULT1A2 (L189I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3172043	NM_001054.4(SULT1A2):c.526G>A (p.Val176Met)	SULT1A2 (V176M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3172042	NM_001054.4(SULT1A2):c.487A>G (p.Met163Val)	SULT1A2 (M163V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3172041	NM_001054.4(SULT1A2):c.443T>C (p.Val148Ala)	SULT1A2 (V148A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3172040	NM_001054.4(SULT1A2):c.441A>C (p.Lys147Asn)	SULT1A2 (K147N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3172039	NM_001054.4(SULT1A2):c.296C>T (p.Thr99Ile)	SULT1A2 (T99I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3172037	NM_001054.4(SULT1A2):c.193G>A (p.Gly65Ser)	SULT1A2 (G65S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063469	GRCh37/hg19 16p11.2(chr16:28485883-29347116)x1	APOBR, ATP2A1 +15 more	Copy number loss	not specified	GPathogenic
Select item 3063422	GRCh37/hg19 16p11.2(chr16:28371467-29379768)x1	APOBR, ATP2A1 +17 more	Copy number loss	not specified	GPathogenic
Select item 3063415	GRCh37/hg19 16p11.2(chr16:28486928-29438326)x1	APOBR, ATP2A1 +15 more	Copy number loss	not specified	GPathogenic
Select item 2684799	GRCh37/hg19 16p11.2(chr16:28441539-29351827)x3	APOBR, ATP2A1 +15 more	Copy number gain	not provided	GUncertain significance
Select item 2596974	NM_001054.4(SULT1A2):c.823C>T (p.Arg275Cys)	SULT1A2 (R242C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589625	NM_001054.4(SULT1A2):c.146C>T (p.Ser49Phe)	SULT1A2 (S49F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2573121	GRCh37/hg19 16p12.2-11.2(chr16:21475039-29043958)x1	NPIPB5, PALB2 +64 more	Copy number loss	Chromosome 16p12.2-p11.2 deletion syndrome	GPathogenic
Select item 2560252	NM_001054.4(SULT1A2):c.296C>A (p.Thr99Lys)	SULT1A2 (H127Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552283	NM_001054.4(SULT1A2):c.502T>C (p.Ser168Pro)	SULT1A2 (S168P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2513457	NM_001054.4(SULT1A2):c.842C>T (p.Ala281Val)	SULT1A2 (A248V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495629	NM_001054.4(SULT1A2):c.394G>A (p.Ala132Thr)	SULT1A2 (A132T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2494364	NM_001054.4(SULT1A2):c.503C>T (p.Ser168Phe)	SULT1A2 (S168F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2478886	NM_001054.4(SULT1A2):c.340C>T (p.Leu114Phe)	SULT1A2 (A142V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466828	NM_001054.4(SULT1A2):c.509G>C (p.Gly170Ala)	SULT1A2 (G170A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2423886	NC_000016.9:g.(?_27441393)_(28899063_?)del	APOBR, ATP2A1 +18 more	Deletion	not provided	GUncertain significance
Select item 2423570	NC_000016.9:g.(?_27441393)_(29001333_?)del	APOBR, ATP2A1 +23 more	Deletion	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 2395727	NM_001054.4(SULT1A2):c.280G>A (p.Glu94Lys)	SULT1A2 (E94K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390530	NM_001054.4(SULT1A2):c.731G>A (p.Arg244His)	SULT1A2 (R211H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372908	NM_001054.4(SULT1A2):c.637C>T (p.Arg213Cys)	SULT1A2 (R139C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369164	NM_001054.4(SULT1A2):c.445T>C (p.Tyr149His)	SULT1A2 (Y149H)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2366966	NM_001054.4(SULT1A2):c.874C>T (p.Arg292Cys)	SULT1A2 (R218C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333465	NM_001054.4(SULT1A2):c.815A>G (p.Gln272Arg)	SULT1A2 (Q198R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288465	NM_001054.4(SULT1A2):c.449C>G (p.Pro150Arg)	SULT1A2 (P150R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2272603	NM_001054.4(SULT1A2):c.214C>G (p.Arg72Gly)	SULT1A2 (R72G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245046	NM_001054.4(SULT1A2):c.593A>T (p.Glu198Val)	SULT1A2 (E198V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2217305	NM_001054.4(SULT1A2):c.738G>C (p.Glu246Asp)	SULT1A2 (E172D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209246	NM_001054.4(SULT1A2):c.734G>A (p.Arg245Gln)	SULT1A2 (R171Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1809394	GRCh37/hg19 16p11.2(chr16:28371468-29342589)x3	APOBR, ATP2A1 +17 more	Copy number gain	not provided	GUncertain significance
Select item 1808864	GRCh37/hg19 16p11.2(chr16:28384464-29432245)x3	APOBR, ATP2A1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 1808696	GRCh37/hg19 16p12.2-11.2(chr16:21576803-30177240)x3	ALDOA, APOBR +93 more	Copy number gain	not provided	GPathogenic
Select item 1808112	GRCh37/hg19 16p11.2(chr16:28490480-29379768)x1	APOBR, ATP2A1 +15 more	Copy number loss	not provided	GPathogenic
Select item 1807834	GRCh37/hg19 16p11.2(chr16:28486929-29351826)x1	APOBR, ATP2A1 +15 more	Copy number loss	not provided	GPathogenic
Select item 1807828	GRCh37/hg19 16p11.2(chr16:28466731-30321320)x1	ALDOA, APOBR +48 more	Copy number loss	not provided	GPathogenic
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1710520	GRCh37/hg19 16p11.2(chr16:28483659-29341550)x1	CLN3, EIF3C +15 more	Copy number loss	not provided	GPathogenic
Select item 1703567	GRCh37/hg19 16p11.2(chr16:28349949-29342589)	APOBR, ATP2A1 +17 more	Copy number loss	Distal 16p11.2 microdeletion syndrome	GPathogenic
Select item 1341176	GRCh37/hg19 16p11.2(chr16:28485883-29416001)x1	APOBR, ATP2A1 +15 more	Copy number loss	not provided	GPathogenic
Select item 1340752	GRCh37/hg19 16p11.2(chr16:28485883-29589674)x1	APOBR, ATP2A1 +18 more	Copy number loss	not provided	GPathogenic
Select item 1340300	GRCh37/hg19 16p11.2(chr16:28384465-29351826)x3	APOBR, ATP2A1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 1330173	GRCh37/hg19 16p11.2(chr16:28353878-29478115)x3	EIF3C, EIF3CL +20 more	Copy number gain	Distal 16p11.2 microdeletion syndrome	GLikely pathogenic
Select item 1328113	GRCh37/hg19 16p12.2-11.2(chr16:21594997-29625302)x1	APOBR, AQP8 +67 more	Copy number loss	not provided	GPathogenic
Select item 1073956	NC_000016.9:g.(?_28488827)_(28950294_?)del	CD19, CLN3 +12 more	Deletion	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 988931	GRCh37/hg19 16p11.2(chr16:28483631-29332591)x3	NUPR1, RABEP2 +15 more	Copy number gain	not provided	GUncertain significance
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 979445	GRCh37/hg19 16p11.2(chr16:28384463-29343462)x3	ATP2A1, ATXN2L +16 more	Copy number gain	not provided	GUncertain significance
Select item 979440	GRCh37/hg19 16p11.2(chr16:28488319-30178406)x1	ATXN2L, PAGR1 +44 more	Copy number loss	not provided	GPathogenic
Select item 979439	GRCh37/hg19 16p11.2(chr16:28336673-29358712)x1	CLN3, EIF3C +17 more	Copy number loss	not provided	GPathogenic
Select item 972938	GRCh37/hg19 16p12.2-11.2(chr16:21312200-29646379)x3	KDM8, LAT +69 more	Copy number gain	not provided	Gnot provided
Select item 830213	NC_000016.9:g.21530207_29332245del	KDM8, LAT +64 more	Deletion	not provided	GPathogenic
Select item 815816	GRCh37/hg19 16p11.2(chr16:28545586-29351826)x3	TUFM, SGF29 +12 more	Copy number gain	not provided	GUncertain significance
Select item 815815	GRCh37/hg19 16p11.2(chr16:28466730-30178406)x1	ZG16, QPRT +44 more	Copy number loss	not provided	GPathogenic
Select item 815811	GRCh37/hg19 16p12.2-11.2(chr16:21576802-29351826)x3	GGA2, GSG1L +64 more	Copy number gain	not provided	GPathogenic
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 687737	GRCh37/hg19 16p11.2(chr16:28466730-30177916)x1	ALDOA, APOBR +44 more	Copy number loss	not provided	GPathogenic
Select item 685912	GRCh37/hg19 16p11.2(chr16:28371467-29416001)x3	APOBR, ATP2A1 +17 more	Copy number gain	not provided	GPathogenic
Select item 685632	GRCh37/hg19 16p11.2(chr16:28466730-30191848)x1	ALDOA, APOBR +44 more	Copy number loss	not provided	GPathogenic
Select item 625600	GRCh37/hg19 16p11.2(chr16:28529940-28906458)	ATP2A1, ATXN2L +7 more	Copy number loss	Distal 16p11.2 microdeletion syndrome	GPathogenic
Select item 584086	NC_000016.10:g.(?_28487456)_(28595930_?)del	APOBR, CLN3 +9 more	Deletion	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 564309	GRCh37/hg19 16p11.2(chr16:28389576-29438326)x1	TUFM, SULT1A2 +16 more	Copy number loss	not provided	GPathogenic
Select item 564297	GRCh37/hg19 16p12.2-11.2(chr16:21379628-29379768)x1	APOBR, AQP8 +65 more	Copy number loss	not provided	GPathogenic
Select item 545197	NC_000016.10:g.(?_28351819)_(29325073_?)del	APOBR, ATP2A1 +68 more	Deletion	Schizophrenia	GPathogenic
Select item 443422	GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3	ACSM1, ACSM2A +128 more	Copy number gain	See cases	GPathogenic
Select item 443382	GRCh37/hg19 16p12.2-11.2(chr16:21379628-29351826)x3	APOBR, AQP8 +65 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 443086	GRCh37/hg19 16p12.2-11.2(chr16:22718350-28858721)x4	APOBR, AQP8 +44 more	Copy number gain	See cases	GPathogenic
Select item 442994	GRCh37/hg19 16p11.2(chr16:28371467-29426399)x4	APOBR, ATP2A1 +17 more	Copy number gain	See cases	GUncertain significance
Select item 442963	GRCh37/hg19 16p11.2(chr16:28441538-30178406)x1	ALDOA, APOBR +44 more	Copy number loss	See cases	GPathogenic
Select item 442530	GRCh37/hg19 16p11.2(chr16:28466730-29427247)x1	APOBR, ATP2A1 +15 more	Copy number loss	See cases	GPathogenic
Select item 442244	GRCh37/hg19 16p12.2-11.2(chr16:21596299-30399167)x1	ALDOA, APOBR +102 more	Copy number loss	See cases	GPathogenic
Select item 441576	GRCh37/hg19 16p11.2(chr16:28384463-29343462)x1	APOBR, ATP2A1 +16 more	Copy number loss	See cases	GPathogenic
Select item 395601	GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3	ACSM1, ACSM2A +119 more	Copy number gain	See cases	GPathogenic
Select item 395542	GRCh37/hg19 16p11.2(chr16:28486693-29048572)x1	APOBR, ATP2A1 +15 more	Copy number loss	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 394291	GRCh37/hg19 16p11.2(chr16:28486693-30197290)x1	ALDOA, APOBR +45 more	Copy number loss	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 268058	GRCh37/hg19 16p11.2(chr16:28484556-29043450)x1	IL27, LAT +15 more	Copy number loss	See cases	GPathogenic
Select item 253631	GRCh37/hg19 16p11.2(chr16:28486693-29043960)x1	ATXN2L, NFATC2IP +15 more	Copy number loss	See cases	GPathogenic
Select item 221513	GRCh37/hg19 16p12.3-11.2(chr16:19590412-29814175)x3	ACSM1, ACSM2A +95 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 160911	GRCh38/hg38 16p11.2(chr16:28589904-29030797)x3	ATP2A1, ATP2A1-AS1 +45 more	Copy number gain	See cases	GUncertain significance
Select item 157361	NC_000016.10:g.28592568_28609431dup	LOC112340392, SULT1A1 +1 more	Duplication	Preeclampsia	Gnot provided
Select item 154502	GRCh38/hg38 16p12.1-11.2(chr16:28492482-29170875)x3	APOBR, ATP2A1 +57 more	Copy number gain	See cases	GUncertain significance

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