57020[geneid] - ClinVar

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Items: 47

	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 +852 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	LOC125146428, LOC125146429 +400 more	Copy number gain	See cases	GPathogenic
Select item 3188923	NM_020314.5(VPS35L):c.89C>T (p.Ala30Val)	VPS35L (A30V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188919	NM_020314.7(VPS35L):c.-3A>C	VPS35L	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2646276	NM_020314.7(VPS35L):c.219C>T (p.Leu73=)	VPS35L	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3188922	NM_020314.7(VPS35L):c.290G>A (p.Ser97Asn)	VPS35L (S97N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 989442	NM_020314.7(VPS35L):c.830dup (p.Cys277fs)	VPS35L (C277fs)	Duplication (frameshift variant +2 more)	Ritscher-Schinzel syndrome 3	GPathogenic
Select item 3068040	NM_020314.7(VPS35L):c.938C>G (p.Ser313Ter)	LOC126862307, VPS35L (S313*)	Single nucleotide variant (nonsense +2 more)	Ritscher-Schinzel syndrome 3	GLikely pathogenic
Select item 2646277	NM_020314.7(VPS35L):c.1062A>C (p.Leu354=)	VPS35L	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3188915	NM_020314.7(VPS35L):c.1184T>C (p.Met395Thr)	VPS35L (M395T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3188916	NM_020314.7(VPS35L):c.1307G>A (p.Arg436Gln)	VPS35L (R369Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3364325	NM_020314.7(VPS35L):c.1318A>G (p.Ile440Val)	VPS35L (I144V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3068428	NM_020314.7(VPS35L):c.1383+2T>A	VPS35L	Single nucleotide variant (splice donor variant)	Ritscher-Schinzel syndrome 3	GPathogenic
Select item 3364326	NM_020314.7(VPS35L):c.1459A>C (p.Asn487His)	VPS35L (N191H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2672622	NM_020314.7(VPS35L):c.1554G>A (p.Thr518=)	VPS35L	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 3188917	NM_020314.7(VPS35L):c.1908G>T (p.Leu636Phe)	VPS35L (L340F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2631580	NM_020314.7(VPS35L):c.2161C>T (p.Arg721Cys)	VPS35L (R425C +4 more)	Single nucleotide variant (missense variant +1 more)	VPS35L-related disorder	GUncertain significance
Select item 2575811	NM_020314.7(VPS35L):c.2186G>C (p.Gly729Ala)	VPS35L (G433A +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3188918	NM_020314.7(VPS35L):c.2249G>A (p.Ser750Asn)	VPS35L (S657N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1259444	NM_020314.7(VPS35L):c.2286T>C (p.Asp762=)	VPS35L	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3068429	NM_020314.7(VPS35L):c.2360C>T (p.Pro787Leu)	VPS35L (P491L +4 more)	Single nucleotide variant (missense variant +1 more)	Ritscher-Schinzel syndrome 3	GPathogenic
Select item 1249421	NM_020314.7(VPS35L):c.2362-8T>C	VPS35L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3188920	NM_020314.7(VPS35L):c.2408A>T (p.Asn803Ile)	VPS35L (N507I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188921	NM_020314.7(VPS35L):c.2456G>A (p.Arg819His)	VPS35L (R819H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 989441	NM_020314.7(VPS35L):c.2488G>A (p.Ala830Thr)	VPS35L (A534T +4 more)	Single nucleotide variant (missense variant +1 more)	Ritscher-Schinzel syndrome 3	GPathogenic
Select item 3378268	NM_020314.7(VPS35L):c.2519T>C (p.Ile840Thr)	VPS35L (I544T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3024800	NM_020314.7(VPS35L):c.2713C>T (p.Arg905Cys)	VPS35L (R609C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3068427	NM_020314.7(VPS35L):c.2715CAA[2] (p.Asn907del)	VPS35L (N611del +4 more)	Microsatellite (inframe_deletion +1 more)	Ritscher-Schinzel syndrome 3	GPathogenic
Select item 2634212	NM_020314.7(VPS35L):c.2886G>C (p.Arg962Ser)	VPS35L (R666S +4 more)	Single nucleotide variant (missense variant +1 more)	VPS35L-related disorder	GUncertain significance
Select item 3339719	NC_000016.9:g.(19663413_19680481)_(19693713_19702674)del	VPS35L	Deletion	not specified	GUncertain significance
Select item 2684798	GRCh37/hg19 16p12.3(chr16:19046826-19831178)x3	CCP110, CLEC19A +9 more	Copy number gain	not provided	GUncertain significance
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 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	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	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 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	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 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	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 221512	GRCh37/hg19 16p12.3(chr16:19083339-19586433)x4	CCP110, CLEC19A +6 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: 47