18971[HGNC] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 58844	GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1	ABCB6, ACSL3 +195 more	Copy number loss	See cases	GPathogenic
Select item 146029	GRCh38/hg38 2q36.1-36.2(chr2:221663502-224426183)x1	ACSL3, ACSL3-AS1 +75 more	Copy number loss	See cases	GPathogenic
Select item 58846	GRCh38/hg38 2q36.1(chr2:223597428-224061556)x1	AP1S3, LOC112840902 +29 more	Copy number loss	See cases	GPathogenic
Select item 2651946	NC_000002.12:g.223752845T>C	AP1S3	Single nucleotide variant	not provided	GLikely benign
Select item 2628220	NM_001039569.2(AP1S3):c.429+78dup	AP1S3	Duplication (intron variant)	not specified	GBenign
Select item 2688202	NM_001039569.2(AP1S3):c.429+51_429+56dup	AP1S3	Duplication (intron variant)	not specified	GBenign
Select item 2628211	NM_001039569.2(AP1S3):c.429+33ATG[8]	AP1S3	Microsatellite (intron variant)	not specified	GBenign
Select item 2628169	NM_001039569.2(AP1S3):c.429+33ATG[9]	AP1S3	Microsatellite (intron variant)	not specified	GBenign
Select item 2397048	NM_001039569.2(AP1S3):c.337A>C (p.Ile113Leu)	AP1S3 (I113L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2628198	NM_001039569.2(AP1S3):c.291+2651T>C	AP1S3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3033468	NM_001039569.2(AP1S3):c.267G>A (p.Glu89=)	AP1S3	Single nucleotide variant (synonymous variant +1 more)	AP1S3-related disorder	GLikely benign
Select item 1301563	NM_001039569.2(AP1S3):c.248T>C (p.Ile83Thr)	AP1S3 (I83T)	Single nucleotide variant (missense variant +1 more)	Psoriasis 15, pustular, susceptibility to +1 more	GBenign/Likely benign
Select item 3050716	NM_001039569.2(AP1S3):c.240G>A (p.Thr80=)	AP1S3	Single nucleotide variant (synonymous variant +1 more)	AP1S3-related disorder	GLikely benign
Select item 3043974	NM_001039569.2(AP1S3):c.235T>G (p.Leu79Val)	AP1S3 (L79V)	Single nucleotide variant (missense variant +1 more)	AP1S3-related disorder	GBenign
Select item 3127479	NM_001039569.2(AP1S3):c.190A>G (p.Ser64Gly)	AP1S3 (S64G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2628237	NM_001039569.2(AP1S3):c.183-78_183-77insTT	AP1S3	Insertion (intron variant)	not specified	GBenign
Select item 2628301	NM_001039569.2(AP1S3):c.183-137G>A	AP1S3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688467	NM_001039569.2(AP1S3):c.183-170A>G	AP1S3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 160375	NM_001039569.2(AP1S3):c.97C>T (p.Arg33Trp)	AP1S3 (R33W)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 1206126	NM_001039569.2(AP1S3):c.95C>T (p.Thr32Ile)	AP1S3 (T32I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1301564	NM_001039569.2(AP1S3):c.64A>G (p.Thr22Ala)	AP1S3 (T22A)	Single nucleotide variant (missense variant +1 more)	Psoriasis 15, pustular, susceptibility to +1 more	GLikely benign
Select item 2688582	NM_001039569.2(AP1S3):c.28C>T (p.Arg10Ter)	AP1S3 (R10*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 160376	NM_001039569.2(AP1S3):c.11T>G (p.Phe4Cys)	AP1S3 (F4C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3046053	NM_001039569.2(AP1S3):c.4-7del	AP1S3	Deletion (intron variant)	AP1S3-related disorder	GLikely benign
Select item 3050615	NM_001039569.2(AP1S3):c.3+9G>C	AP1S3, LOC129935691	Single nucleotide variant (intron variant)	AP1S3-related disorder	GLikely benign
Select item 1285186	NM_001039569.2(AP1S3):c.3+8C>A	AP1S3, LOC129935691	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 3062392	GRCh37/hg19 2q36.1(chr2:224634382-224670920)x1	AP1S3	Copy number loss	not specified	GUncertain significance
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 1703585	GRCh37/hg19 2q36.1-36.2(chr2:222902251-226084516)	ACSL3, AP1S3 +13 more	Copy number loss	Waardenburg syndrome type 1	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526956	GRCh37/hg19 2q36.1(chr2:224487310-224882397)	AP1S3, MRPL44 +2 more	Copy number gain	not specified	GUncertain significance
Select item 1526955	GRCh37/hg19 2q36.1-37.1(chr2:223378640-232061074)	ACSL3, AGFG1 +40 more	Copy number loss	not specified	GPathogenic
Select item 1526953	GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)	FBXO36, UGT1A5 +147 more	Copy number loss	not specified	GPathogenic
Select item 1434117	NC_000002.11:g.(?_224623432)_(225449726_?)dup	AP1S3, CUL3 +4 more	Duplication	not provided	GUncertain significance
Select item 1180532	GRCh37/hg19 2q35-36.3(chr2:220056891-227164817)x1	PTPRN, RESP18 +36 more	Copy number loss	not provided	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 980009	GRCh37/hg19 2q36.1(chr2:222621434-224754689)x1	MOGAT1, KCNE4 +8 more	Copy number loss	not provided	GPathogenic
Select item 685837	GRCh37/hg19 2q36.1(chr2:224624079-224726623)x3	AP1S3	Copy number gain	not provided	GUncertain significance
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 562681	GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3	ABCB6, ACKR3 +183 more	Copy number gain	not provided	GPathogenic
Select item 562674	GRCh37/hg19 2q35-36.3(chr2:218813434-227450699)x1	AAMP, ABCB6 +71 more	Copy number loss	not provided	GPathogenic
Select item 562669	GRCh37/hg19 2q35-36.2(chr2:220614743-225587770)x1	PAX3, FAM124B +13 more	Copy number loss	not provided	GPathogenic
Select item 562666	GRCh37/hg19 2q35-36.3(chr2:221439250-226170404)x1	SGPP2, MRPL44 +14 more	Copy number loss	not provided	GPathogenic
Select item 493568	GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1	IRS1, KCNE4 +77 more	Copy number loss	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442425	GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3	UGT1A8, UGT1A9 +113 more	Copy number gain	See cases	GPathogenic
Select item 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 more	Copy number gain	See cases	GPathogenic

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Items: 57