8951[HGNC] - ClinVar

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Items: 52

	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 3317628	NM_001136528.2(SERPINE2):c.1115T>C (p.Val372Ala)	SERPINE2 (V372A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370092	NM_001136528.2(SERPINE2):c.871G>T (p.Val291Leu)	SERPINE2 (V303L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160474	NM_001136528.2(SERPINE2):c.684T>G (p.Cys228Trp)	SERPINE2 (C228W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593425	NM_001136528.2(SERPINE2):c.634G>A (p.Gly212Arg)	SERPINE2 (G212R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160473	NM_001136528.2(SERPINE2):c.620T>C (p.Phe207Ser)	SERPINE2 (F219S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337430	NM_001136528.2(SERPINE2):c.547C>T (p.Leu183Phe)	SERPINE2 (L183F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407085	NM_001136528.2(SERPINE2):c.421G>A (p.Val141Met)	SERPINE2 (V141M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320336	NM_001136528.2(SERPINE2):c.383C>G (p.Thr128Arg)	SERPINE2 (T128R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317630	NM_001136528.2(SERPINE2):c.355G>A (p.Ala119Thr)	SERPINE2 (A119T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395919	NM_001136528.2(SERPINE2):c.340G>A (p.Val114Met)	SERPINE2 (V126M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546521	NM_001136528.2(SERPINE2):c.305A>G (p.Lys102Arg)	SERPINE2 (K114R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160472	NM_001136528.2(SERPINE2):c.298G>A (p.Val100Ile)	SERPINE2 (V100I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160471	NM_001136528.2(SERPINE2):c.290A>G (p.Lys97Arg)	SERPINE2 (K109R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557201	NM_001136528.2(SERPINE2):c.253G>A (p.Val85Ile)	SERPINE2 (V97I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 735799	NM_001136528.2(SERPINE2):c.210C>T (p.Asp70=)	SERPINE2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2510627	NM_001136528.2(SERPINE2):c.157A>G (p.Ile53Val)	SERPINE2 (I53V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2476729	NM_001136528.2(SERPINE2):c.107T>C (p.Ile36Thr)	SERPINE2 (I48T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526299	NM_001136528.2(SERPINE2):c.101C>T (p.Thr34Met)	SERPINE2 (T34M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317629	NM_001136528.2(SERPINE2):c.52A>G (p.Ile18Val)	SERPINE2 (I18V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3160475	NM_001136528.2(SERPINE2):c.46C>T (p.Pro16Ser)	SERPINE2 (P16S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
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 980011	GRCh37/hg19 2q36.1(chr2:224882396-225104088)x3	SERPINE2	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: 52