116255[Gene ID] - ClinVar

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Items: 64

	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 3295515	NM_058165.3(MOGAT1):c.28A>G (p.Ile10Val)	MOGAT1 (I10V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191627	NM_058165.3(MOGAT1):c.65T>C (p.Leu22Pro)	MOGAT1 (L22P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363823	NM_058165.3(MOGAT1):c.77T>G (p.Leu26Arg)	MOGAT1 (L26R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377364	NM_058165.3(MOGAT1):c.91C>A (p.Leu31Ile)	MOGAT1 (L31I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191102	NM_058165.3(MOGAT1):c.158C>G (p.Pro53Arg)	MOGAT1 (P53R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295516	NM_058165.3(MOGAT1):c.168G>A (p.Met56Ile)	MOGAT1 (M56I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361358	NM_058165.3(MOGAT1):c.206G>T (p.Gly69Val)	MOGAT1 (G69V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295514	NM_058165.3(MOGAT1):c.215C>A (p.Ser72Tyr)	MOGAT1 (S72Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191169	NM_058165.3(MOGAT1):c.232T>C (p.Trp78Arg)	MOGAT1 (W78R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606789	NM_058165.3(MOGAT1):c.324T>A (p.Phe108Leu)	MOGAT1 (F108L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191237	NM_058165.3(MOGAT1):c.327C>A (p.His109Gln)	MOGAT1 (H109Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191265	NM_058165.3(MOGAT1):c.391G>T (p.Asp131Tyr)	MOGAT1 (D131Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191292	NM_058165.3(MOGAT1):c.423C>G (p.His141Gln)	MOGAT1 (H141Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714169	NM_058165.3(MOGAT1):c.423C>T (p.His141=)	MOGAT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2520382	NM_058165.3(MOGAT1):c.449C>G (p.Pro150Arg)	MOGAT1 (P150R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731083	NM_058165.3(MOGAT1):c.509C>A (p.Ser170Tyr)	MOGAT1 (S170Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2600906	NM_058165.3(MOGAT1):c.518T>C (p.Val173Ala)	MOGAT1 (V173A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261441	NM_058165.3(MOGAT1):c.533G>A (p.Gly178Asp)	MOGAT1 (G178D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274318	NM_058165.3(MOGAT1):c.586C>T (p.His196Tyr)	MOGAT1 (H196Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330794	NM_058165.3(MOGAT1):c.597G>T (p.Lys199Asn)	MOGAT1 (K199N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406560	NM_058165.3(MOGAT1):c.613C>T (p.Arg205Cys)	MOGAT1 (R205C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385057	NM_058165.3(MOGAT1):c.619C>T (p.Arg207Trp)	MOGAT1 (R207W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191519	NM_058165.3(MOGAT1):c.620G>A (p.Arg207Gln)	MOGAT1 (R207Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191573	NM_058165.3(MOGAT1):c.626G>A (p.Gly209Glu)	MOGAT1 (G209E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211373	NM_058165.3(MOGAT1):c.651T>A (p.His217Gln)	MOGAT1 (H217Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527222	NM_058165.3(MOGAT1):c.697T>G (p.Phe233Val)	MOGAT1 (F233V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526922	NM_058165.3(MOGAT1):c.720A>C (p.Glu240Asp)	MOGAT1 (E240D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191715	NM_058165.3(MOGAT1):c.724T>C (p.Ser242Pro)	MOGAT1 (S242P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295517	NM_058165.3(MOGAT1):c.752T>A (p.Leu251Gln)	MOGAT1 (L251Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 156823	Single allele	LOC111828512, MOGAT1	Deletion	Gestational diabetes mellitus uncontrolled	Gnot provided
Select item 3191765	NM_058165.3(MOGAT1):c.874C>T (p.Arg292Cys)	LOC111828512, MOGAT1 (R292C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314229	NM_058165.3(MOGAT1):c.983A>C (p.Glu328Ala)	MOGAT1 (E328A)	Single nucleotide variant (missense variant)	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 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: 64