ClinVar for Gene (Select 6817) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3323591	NM_001055.4(SULT1A1):c.86G>A (p.Gly29Glu)	SULT1A1 (G29E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323590	NM_001055.4(SULT1A1):c.437C>G (p.Ala146Gly)	SULT1A1 (A146G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323589	NM_001055.4(SULT1A1):c.824G>A (p.Arg275His)	SULT1A1 (R275H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243421	NC_000016.9:g.(?_28488837)_(29001333_?)del	APOBR, ATP2A1 +15 more	Deletion	Brody myopathy	GPathogenic
Select item 3172036	NM_001055.4(SULT1A1):c.874C>T (p.Arg292Cys)	SULT1A1 (R292C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172035	NM_001055.4(SULT1A1):c.842C>T (p.Ala281Val)	SULT1A1 (A180V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172034	NM_001055.4(SULT1A1):c.841G>A (p.Ala281Thr)	SULT1A1 (A281T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172033	NM_001055.4(SULT1A1):c.800C>T (p.Thr267Ile)	SULT1A1 (T166I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172032	NM_001055.4(SULT1A1):c.715A>C (p.Asn239His)	SULT1A1 (N138H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172030	NM_001055.4(SULT1A1):c.637C>T (p.Arg213Cys)	SULT1A1 (R112C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172029	NM_001055.4(SULT1A1):c.56C>A (p.Pro19Gln)	SULT1A1 (P19Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172028	NM_001055.4(SULT1A1):c.43G>A (p.Val15Met)	SULT1A1 (V15M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172027	NM_001055.4(SULT1A1):c.389G>A (p.Arg130His)	SULT1A1 (R29H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172026	NM_001055.4(SULT1A1):c.26G>A (p.Arg9His)	SULT1A1 (R9H)	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 2646352	NM_001055.4(SULT1A1):c.27C>T (p.Arg9=)	SULT1A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2646351	NM_001055.4(SULT1A1):c.300G>A (p.Pro100=)	SULT1A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2605855	NM_001055.4(SULT1A1):c.694A>T (p.Met232Leu)	SULT1A1 (M131L +1 more)	Single nucleotide variant (missense variant)	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 2547484	NM_001055.4(SULT1A1):c.815A>G (p.Gln272Arg)	SULT1A1 (Q171R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544893	NM_001055.4(SULT1A1):c.380A>G (p.Tyr127Cys)	SULT1A1 (Y127C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515586	NM_001055.4(SULT1A1):c.506A>G (p.Tyr169Cys)	SULT1A1 (Y68C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498656	NM_001055.4(SULT1A1):c.-5+493C>A	SULT1A1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2459184	NM_001055.4(SULT1A1):c.124C>G (p.Leu42Val)	SULT1A1 (L42V)	Single nucleotide variant (missense variant +1 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 2411779	NM_001055.4(SULT1A1):c.332T>G (p.Leu111Arg)	SULT1A1 (L111R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387166	NM_177536.5(SULT1A1):c.-17C>T	SULT1A1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2363158	NM_177536.5(SULT1A1):c.68T>C (p.Met23Thr)	SULT1A1 (M23T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2360662	NM_001055.4(SULT1A1):c.854C>T (p.Ala285Val)	SULT1A1 (A285V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342630	NM_001055.4(SULT1A1):c.658G>A (p.Val220Met)	SULT1A1 (V220M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318743	NM_001055.4(SULT1A1):c.526G>A (p.Val176Met)	SULT1A1 (V75M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315394	NM_001055.4(SULT1A1):c.541G>C (p.Glu181Gln)	SULT1A1 (E181Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314027	NM_001055.4(SULT1A1):c.506A>T (p.Tyr169Phe)	SULT1A1 (Y169F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207130	NM_001055.4(SULT1A1):c.605G>T (p.Arg202Met)	SULT1A1 (R101M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1679691	Single allele	LAT, LOC112340393 +44 more	Deletion	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 997064	GRCh37/hg19 16p11.2(chr16:28615644-29042118)	ATP2A1, CD19 +9 more	Copy number gain	Familial atrioventricular septal defect +2 more	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 634446	NM_001055.4(SULT1A1):c.214C>T (p.Arg72Ter)	SULT1A1 (R72*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
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 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
Select item 153260	GRCh38/hg38 16p12.1-11.2(chr16:28320366-29415078)x3	APOBR, ATP2A1 +72 more	Copy number gain	See cases	GUncertain significance
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 152023	GRCh38/hg38 16p12.1-11.2(chr16:28392832-29170875)x1	APOBR, ATP2A1 +61 more	Copy number loss	See cases	GPathogenic

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