19953[HGNC] - ClinVar

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Items: 58

	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 2278631	NM_152386.4(SGPP2):c.20G>A (p.Ser7Asn)	SGPP2 (S7N)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2595388	NM_152386.4(SGPP2):c.85G>A (p.Glu29Lys)	LOC129935673, SGPP2 (E29K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3161050	NM_152386.4(SGPP2):c.124G>A (p.Ala42Thr)	LOC129935673, SGPP2 (A42T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2551057	NM_152386.4(SGPP2):c.130C>T (p.Arg44Trp)	LOC129935673, SGPP2 (R44W)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3317954	NM_152386.4(SGPP2):c.136C>T (p.Pro46Ser)	LOC129935673, SGPP2 (P46S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2600521	NM_152386.4(SGPP2):c.164A>G (p.Asn55Ser)	LOC129935673, SGPP2 (N55S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2308594	NM_152386.4(SGPP2):c.221C>T (p.Ala74Val)	SGPP2 (A74V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2509154	NM_152386.4(SGPP2):c.241G>A (p.Val81Met)	SGPP2 (V81M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2547151	NM_152386.4(SGPP2):c.284C>T (p.Ala95Val)	SGPP2 (A95V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3317957	NM_152386.4(SGPP2):c.298G>A (p.Val100Met)	SGPP2 (V100M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2375594	NM_152386.4(SGPP2):c.311C>T (p.Thr104Met)	SGPP2 (T104M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3317955	NM_152386.4(SGPP2):c.338T>C (p.Ile113Thr)	SGPP2 (I113T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3317959	NM_152386.4(SGPP2):c.493A>T (p.Thr165Ser)	SGPP2 (T37S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317953	NM_152386.4(SGPP2):c.641C>T (p.Thr214Met)	SGPP2 (T214M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592551	NM_152386.4(SGPP2):c.676G>A (p.Ala226Thr)	SGPP2 (A226T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161051	NM_152386.4(SGPP2):c.698A>T (p.Tyr233Phe)	SGPP2 (Y105F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317956	NM_152386.4(SGPP2):c.718G>A (p.Asp240Asn)	SGPP2 (D112N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305771	NM_152386.4(SGPP2):c.821G>A (p.Arg274Gln)	SGPP2 (R146Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375749	NM_152386.4(SGPP2):c.824C>T (p.Ala275Val)	SGPP2 (A147V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215022	NM_152386.4(SGPP2):c.867A>G (p.Ile289Met)	SGPP2 (I161M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317960	NM_152386.4(SGPP2):c.928A>T (p.Ile310Phe)	SGPP2 (I310F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561057	NM_152386.4(SGPP2):c.1015C>T (p.Arg339Cys)	SGPP2 (R211C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618157	NM_152386.4(SGPP2):c.1027C>A (p.Gln343Lys)	SGPP2 (Q343K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161049	NM_152386.4(SGPP2):c.1093C>G (p.Arg365Gly)	SGPP2 (R365G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358656	NM_152386.4(SGPP2):c.1094G>A (p.Arg365Gln)	SGPP2 (R365Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247534	NC_000002.11:g.(?_223066643)_(223520792_?)dup	CCDC140, FARSB +2 more	Duplication	not provided	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 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 1526955	GRCh37/hg19 2q36.1-37.1(chr2:223378640-232061074)	ACSL3, AGFG1 +40 more	Copy number loss	not specified	GPathogenic
Select item 1526954	GRCh37/hg19 2q36.1(chr2:222828685-224451613)	ACSL3, CCDC140 +5 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 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 980010	GRCh37/hg19 2q36.1(chr2:223277982-223757490)x3	SGPP2, ACSL3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 980009	GRCh37/hg19 2q36.1(chr2:222621434-224754689)x1	MOGAT1, KCNE4 +8 more	Copy number loss	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 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: 58