ClinVar for Gene (Select 8399) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235935	GRCh38/hg38 16p13.12-12.3(chr16:15034129-16187150)	ABCC1, ABCC6 +58 more	Copy number gain	16p13.11 microduplication syndrome	GLikely pathogenic
Select item 3235906	GRCh38/hg38 16p13.12-13.11(chr16:15032610-16203929)	ABCC1, ABCC6 +57 more	Copy number gain	16p13.11 microduplication syndrome	GLikely pathogenic
Select item 2684789	GRCh37/hg19 16p13.12(chr16:14423662-14777432)x3	BFAR, PARN +1 more	Copy number gain	not provided	GUncertain significance
Select item 2612246	NM_003561.3(PLA2G10):c.359C>T (p.Pro120Leu)	PLA2G10 (P120L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2502283	GRCh37/hg19 16p13.12-13.11(chr16:14643928-14725823)x1	BFAR, NPIPA3 +3 more	Copy number loss	Dyskeratosis congenita, autosomal recessive 6	Gnot provided
Select item 2500752	NC_000016.10:g.14683149_16205174dup	ABCC1, ABCC6 +46 more	Duplication	not specified	GUncertain significance
Select item 2498201	Single allele	ABCC1, ABCC6 +57 more	Deletion	16p13.11 recurrent microdeletion syndrome	GLikely pathogenic
Select item 2457544	NM_003561.3(PLA2G10):c.346G>A (p.Val116Ile)	PLA2G10 (V116I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2250054	NM_003561.3(PLA2G10):c.387G>C (p.Leu129Phe)	PLA2G10 (L129F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808623	GRCh37/hg19 16p13.12-13.11(chr16:14780544-16330627)x1	ABCC1, ABCC6 +16 more	Copy number loss	not provided	GPathogenic
Select item 1808599	GRCh37/hg19 16p13.12-12.3(chr16:14365745-17052798)x3	ABCC1, ABCC6 +20 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 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 815795	GRCh37/hg19 16p13.12-13.11(chr16:14780543-16391045)x1	ABCC1, ABCC6 +16 more	Copy number loss	not provided	GPathogenic
Select item 815794	GRCh37/hg19 16p13.12-13.11(chr16:14770672-16458408)x1	ABCC1, ABCC6 +16 more	Copy number loss	not provided	GPathogenic
Select item 815793	GRCh37/hg19 16p13.12-13.11(chr16:14770672-16388343)x1	ABCC1, ABCC6 +16 more	Copy number loss	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 787684	NM_003561.3(PLA2G10):c.360G>A (p.Pro120=)	PLA2G10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 625565	GRCh37/hg19 16p13.12-13.11(chr16:14766480-16286694)	ABCC1, ABCC6 +15 more	Copy number gain	not provided	GPathogenic
Select item 564279	GRCh37/hg19 16p13.12-13.11(chr16:14780641-16498084)x1	ABCC1, ABCC6 +16 more	Copy number loss	not provided	GPathogenic
Select item 564278	GRCh37/hg19 16p13.12-12.3(chr16:14780543-16855348)x1	ABCC1, ABCC6 +16 more	Copy number loss	not provided	GPathogenic
Select item 564274	GRCh37/hg19 16p13.13-13.12(chr16:12007434-14781381)x1	BFAR, CPPED1 +10 more	Copy number loss	not provided	GUncertain significance
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 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 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
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 152077	GRCh38/hg38 16p13.12-13.11(chr16:14686278-16431491)x3	ABCC1, ABCC6 +57 more	Copy number gain	See cases	GUncertain significance
Select item 148522	GRCh38/hg38 16p13.13-13.11(chr16:11952467-15186199)x1	BFAR, CPPED1 +113 more	Copy number loss	See cases	GLikely pathogenic
Select item 148416	GRCh38/hg38 16p13.12(chr16:14140498-14686337)x3	BFAR, LINC02130 +27 more	Copy number gain	See cases	GLikely benign
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 58701	GRCh38/hg38 16p13.13-13.11(chr16:11967831-15162888)x1	BFAR, CPPED1 +110 more	Copy number loss	See cases	GPathogenic
Select item 57622	GRCh38/hg38 16p13.12-13.11(chr16:14668382-16100721)x3	ABCC1, BFAR +45 more	Copy number gain	See cases	GUncertain significance
Select item 57620	GRCh38/hg38 16p13.12-13.11(chr16:14639096-16431491)x3	ABCC1, ABCC6 +58 more	Copy number gain	See cases	GUncertain significance
Select item 57619	GRCh38/hg38 16p13.12-12.3(chr16:14609647-18765817)x3	ABCC1, ABCC6 +101 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 41