58190[Gene ID] - ClinVar

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Items: 50

	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 2538692	NM_021198.3(CTDSP1):c.11C>T (p.Ser4Leu)	CTDSP1 (S4L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2311389	NM_021198.3(CTDSP1):c.33C>G (p.Ser11Arg)	CTDSP1 (S11R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3078599	NM_021198.3(CTDSP1):c.41A>C (p.Glu14Ala)	CTDSP1 (E14A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2241804	NM_021198.3(CTDSP1):c.142C>G (p.Arg48Gly)	CTDSP1 (R48G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270049	NM_021198.3(CTDSP1):c.152G>A (p.Gly51Glu)	CTDSP1 (G51E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078597	NM_021198.3(CTDSP1):c.160C>G (p.Leu54Val)	CTDSP1 (L37V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 769265	NM_021198.3(CTDSP1):c.166G>A (p.Ala56Thr)	CTDSP1 (A56T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3270050	NM_021198.3(CTDSP1):c.167C>T (p.Ala56Val)	CTDSP1 (A39V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475385	NM_021198.3(CTDSP1):c.173G>A (p.Ser58Asn)	CTDSP1 (S41N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 716070	NM_021198.3(CTDSP1):c.174C>T (p.Ser58=)	CTDSP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2459500	NM_021198.3(CTDSP1):c.181C>G (p.Pro61Ala)	CTDSP1 (P44A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323289	NM_021198.3(CTDSP1):c.359T>C (p.Ile120Thr)	CTDSP1 (I119T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2473874	NM_021198.3(CTDSP1):c.424A>G (p.Met142Val)	CTDSP1 (M141V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345346	NM_021198.3(CTDSP1):c.502A>G (p.Lys168Glu)	CTDSP1 (K148E +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244517	NM_021198.3(CTDSP1):c.520G>T (p.Ala174Ser)	CTDSP1 (A139S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250132	NM_021198.3(CTDSP1):c.553C>T (p.Arg185Trp)	CTDSP1 (R193W +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270047	NM_021198.3(CTDSP1):c.580C>T (p.Arg194Trp)	CTDSP1 (R159W +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622204	NM_021198.3(CTDSP1):c.599G>A (p.Arg200Gln)	CTDSP1 (R199Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078600	NM_021198.3(CTDSP1):c.733A>T (p.Ser245Cys)	CTDSP1 (S225C +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345198	NM_021198.3(CTDSP1):c.737G>A (p.Arg246His)	CTDSP1 (R211H +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552377	NM_021198.3(CTDSP1):c.773G>A (p.Arg258Gln)	CTDSP1 (R239Q +6 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 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	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 1526952	GRCh37/hg19 2q35(chr2:218210665-220141650)	AAMP, ABCB6 +42 more	Copy number gain	not specified	GUncertain significance
Select item 1526950	GRCh37/hg19 2q34-36.1(chr2:215108009-221679980)	AAMP, ABCA12 +72 more	Copy number gain	not specified	GPathogenic
Select item 1434778	NC_000002.11:g.(?_218999525)_(220435954_?)dup	MIR375, NHEJ1 +50 more	Duplication	Paroxysmal nonkinesigenic dyskinesia +1 more	GUncertain significance
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 980004	GRCh37/hg19 2q34-35(chr2:215122019-220397907)x1	AAMP, ABCA12 +66 more	Copy number loss	not provided	GLikely pathogenic
Select item 816573	GRCh37/hg19 2q35(chr2:216883237-220953003)x3	CXCR2, FEV +65 more	Copy number gain	not provided	GPathogenic
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 625776	GRCh37/hg19 2q35(chr2:218271898-219825640)	AAMP, ARPC2 +26 more	Copy number gain	not provided	GLikely pathogenic
Select item 583449	NC_000002.11:g.(?_219135239)_(220290732_?)del	CNPPD1, DNAJB2 +39 more	Deletion	Desmin-related myofibrillar myopathy	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 562550	GRCh37/hg19 2q35(chr2:219139778-219368933)x3	CTDSP1, CATIP +6 more	Copy number gain	not provided	GUncertain significance
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 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 more	Copy number gain	See cases	GPathogenic
Select item 221429	GRCh37/hg19 2q35(chr2:219221864-219423299)x3	CATIP, CTDSP1 +4 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 50