283820[Gene ID] - ClinVar

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +851 more	Copy number gain	See cases	GPathogenic
Select item 57619	GRCh38/hg38 16p13.12-12.3(chr16:14609647-18765817)x3	ABCC1, ABCC6 +101 more	Copy number gain	See cases	GUncertain significance
Select item 155076	GRCh38/hg38 16p13.11-12.3(chr16:14783830-18536926)x3	LOC126862302, LOC126862303 +95 more	Copy number gain	See cases	GUncertain significance
Select item 149202	GRCh38/hg38 16p13.11-12.3(chr16:14783830-18768479)x3	ABCC1, ABCC6 +96 more	Copy number gain	See cases	GUncertain significance
Select item 148469	GRCh38/hg38 16p13.11-12.3(chr16:14783830-18680735)x3	ABCC1, ABCC6 +96 more	Copy number gain	See cases	GUncertain significance
Select item 57294	GRCh38/hg38 16p13.11-12.3(chr16:14816348-18658403)x1	ABCC1, ABCC6 +96 more	Copy number loss	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	ABCC1, ABCC6 +400 more	Copy number gain	See cases	GPathogenic
Select item 147644	GRCh38/hg38 16p13.11-12.3(chr16:15060830-18535437)x3	ABCC1, ABCC6 +83 more	Copy number gain	See cases	GPathogenic
Select item 545189	Single allele	LOC125146419, LOC126862299 +83 more	Duplication	Schizophrenia	GPathogenic
Select item 151962	GRCh38/hg38 16p13.11-12.3(chr16:15128213-18577521)x3	ABCC1, ABCC6 +80 more	Copy number gain	See cases	GUncertain significance
Select item 57368	GRCh38/hg38 16p13.11-12.3(chr16:15140576-18658403)x1	ABCC1, ABCC6 +79 more	Copy number loss	See cases	GPathogenic
Select item 3024387	GRCh38/hg38 16p13.11-12.3(chr16:15184811-18708191)	LOC102723692, LOC111365165 +77 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 150157	GRCh38/hg38 16p13.11-12.3(chr16:15184811-18535419)x3	ABCC1, ABCC6 +76 more	Copy number gain	See cases	GUncertain significance
Select item 149549	GRCh38/hg38 16p13.11-12.3(chr16:15186140-18768479)x3	ABCC1, ABCC6 +77 more	Copy number gain	See cases	GUncertain significance
Select item 148632	GRCh38/hg38 16p13.11-12.3(chr16:15186140-18783183)x3	ABCC1, ABCC6 +78 more	Copy number gain	See cases	GUncertain significance
Select item 33873	GRCh38/hg38 16p13.11-12.3(chr16:15186140-18658403)x3	ABCC1, ABCC6 +77 more	Copy number gain	See cases	GUncertain significance
Select item 33471	GRCh38/hg38 16p13.11-12.3(chr16:15186140-18620659)x3	LOC126862305, LOC129390771 +77 more	Copy number gain	See cases	GUncertain significance
Select item 148514	GRCh38/hg38 16p13.11-12.3(chr16:15194583-18726698)x3	MIR3670-2, MIR3670-3 +77 more	Copy number gain	See cases	GUncertain significance
Select item 148377	GRCh38/hg38 16p13.11-12.3(chr16:15261472-18768479)x3	ABCC1, ABCC6 +77 more	Copy number gain	See cases	GUncertain significance
Select item 59274	GRCh38/hg38 16p13.11-12.3(chr16:15310595-18620659)x3	ABCC1, ABCC6 +77 more	Copy number gain	See cases	GUncertain significance
Select item 57438	GRCh38/hg38 16p13.11-12.3(chr16:15457445-18658403)x3	MIR6511A4, MIR6770-2 +75 more	Copy number gain	See cases	GUncertain significance
Select item 148258	GRCh38/hg38 16p13.11-12.3(chr16:16541781-18768479)x3	LOC102723692, LOC111365165 +40 more	Copy number gain	See cases	GUncertain significance
Select item 149137	GRCh38/hg38 16p12.3(chr16:16753846-18768479)x3	LOC102723692, LOC111365165 +40 more	Copy number gain	See cases	GUncertain significance
Select item 3201170	NM_173614.4(NOMO2):c.2344G>A (p.Val782Ile)	NOMO2 (V782I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2461671	NM_173614.4(NOMO2):c.2272C>T (p.Arg758Trp)	NOMO2 (R758W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201169	NM_173614.4(NOMO2):c.2149C>T (p.Arg717Cys)	NOMO2 (R717C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616622	NM_173614.4(NOMO2):c.2100G>T (p.Lys700Asn)	NOMO2 (K700N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233358	NM_173614.4(NOMO2):c.1927C>T (p.Arg643Trp)	NOMO2 (R643W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334103	NM_173614.4(NOMO2):c.1912C>G (p.Pro638Ala)	NOMO2 (P638A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484677	NM_173614.4(NOMO2):c.1744G>T (p.Ala582Ser)	NOMO2 (A582S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556091	NM_173614.4(NOMO2):c.1709G>T (p.Ser570Ile)	NOMO2 (S570I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280845	NM_173614.4(NOMO2):c.1594C>T (p.Arg532Trp)	NOMO2 (R532W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201167	NM_173614.4(NOMO2):c.1592A>G (p.Lys531Arg)	NOMO2 (K531R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354512	NM_173614.4(NOMO2):c.1564C>G (p.Leu522Val)	NOMO2 (L522V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201166	NM_173614.4(NOMO2):c.1474C>G (p.Pro492Ala)	NOMO2 (P492A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387214	NM_173614.4(NOMO2):c.1471A>G (p.Arg491Gly)	NOMO2 (R491G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245139	NM_173614.4(NOMO2):c.1447A>G (p.Thr483Ala)	NOMO2 (T483A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387173	NM_173614.4(NOMO2):c.1438A>G (p.Lys480Glu)	NOMO2 (K480E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594509	NM_173614.4(NOMO2):c.1433C>T (p.Thr478Met)	NOMO2 (T478M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559262	NM_173614.4(NOMO2):c.1417A>G (p.Thr473Ala)	NOMO2 (T473A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201165	NM_173614.4(NOMO2):c.1282A>G (p.Lys428Glu)	NOMO2 (K428E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216880	NM_173614.4(NOMO2):c.1267G>A (p.Val423Ile)	NOMO2 (V423I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211240	NM_173614.4(NOMO2):c.1261G>A (p.Asp421Asn)	NOMO2 (D421N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201164	NM_173614.4(NOMO2):c.1221G>A (p.Gly407=)	NOMO2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2325133	NM_173614.4(NOMO2):c.1184C>T (p.Pro395Leu)	NOMO2 (P395L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372518	NM_173614.4(NOMO2):c.1151T>C (p.Leu384Pro)	NOMO2 (L384P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201163	NM_173614.4(NOMO2):c.1018G>A (p.Glu340Lys)	NOMO2 (E340K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484678	NM_173614.4(NOMO2):c.878C>T (p.Pro293Leu)	NOMO2 (P293L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201172	NM_173614.4(NOMO2):c.859G>C (p.Gly287Arg)	NOMO2 (G287R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485701	NM_173614.4(NOMO2):c.809A>G (p.Tyr270Cys)	NOMO2 (Y270C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238274	NM_173614.4(NOMO2):c.804G>T (p.Leu268Phe)	NOMO2 (L268F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355470	NM_173614.4(NOMO2):c.800A>G (p.Tyr267Cys)	NOMO2 (Y267C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300516	NM_173614.4(NOMO2):c.629G>T (p.Ser210Ile)	NOMO2 (S210I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201171	NM_173614.4(NOMO2):c.625G>A (p.Ala209Thr)	NOMO2 (A209T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510347	NM_173614.4(NOMO2):c.620A>G (p.Asn207Ser)	NOMO2 (N207S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295780	NM_173614.4(NOMO2):c.617C>A (p.Ala206Asp)	NOMO2 (A206D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231906	NM_173614.4(NOMO2):c.599G>A (p.Arg200His)	NOMO2 (R200H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399367	NM_173614.4(NOMO2):c.553G>A (p.Ala185Thr)	NOMO2 (A185T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304047	NM_173614.4(NOMO2):c.434C>A (p.Ala145Glu)	NOMO2 (A145E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553920	NM_173614.4(NOMO2):c.191C>T (p.Thr64Ile)	NOMO2 (T64I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311857	NM_173614.4(NOMO2):c.131A>G (p.Lys44Arg)	NOMO2 (K44R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617119	NM_173614.4(NOMO2):c.32G>A (p.Gly11Glu)	NOMO2 (G11E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352463	NM_173614.4(NOMO2):c.26T>C (p.Leu9Pro)	NOMO2 (L9P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3201168	NM_173614.4(NOMO2):c.19G>A (p.Ala7Thr)	NOMO2 (A7T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684794	GRCh37/hg19 16p13.11-12.3(chr16:15509407-18779589)x3	ABCC1, ABCC6 +8 more	Copy number gain	not provided	GLikely pathogenic
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 1807725	GRCh37/hg19 16p13.11-12.3(chr16:15316939-18770833)x3	ABCC1, ABCC6 +10 more	Copy number gain	not provided	GLikely pathogenic
Select item 1711420	GRCh37/hg19 16p13.11-12.3(chr16:15458733-18520588)x3	ABCC1, ABCC6 +10 more	Copy number gain	not provided	GLikely pathogenic
Select item 1707420	GRCh37/hg19 16p13.11-12.3(chr16:15416917-18770833)x3	ABCC1, ABCC6 +10 more	Copy number gain	See cases	GUncertain significance
Select item 1703604	GRCh37/hg19 16p13.11-12.3(chr16:15316618-18770833)	ABCC1, ABCC6 +10 more	Copy number gain	Autism	GLikely pathogenic
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 980079	GRCh37/hg19 16p13.11-12.3(chr16:15193982-18770833)x3	ABCC1, ABCC6 +10 more	Copy number gain	not provided	GLikely pathogenic
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 564285	GRCh37/hg19 16p13.11-12.3(chr16:15318664-18778064)x1	ABCC1, ABCC6 +10 more	Copy number loss	not provided	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 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	AARS1, ABCC1 +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	DPEP2, DPEP3 +811 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221511	GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3	AMDHD2, ANKS3 +202 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 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic

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Items: 85