79843[Gene ID] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2546958	NM_001122779.2(FAM124B):c.1312C>T (p.His438Tyr)	FAM124B (H438Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323812	NM_001122779.2(FAM124B):c.1303T>C (p.Cys435Arg)	FAM124B (C435R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277136	NM_001122779.2(FAM124B):c.1275C>A (p.Asp425Glu)	FAM124B (D425E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410917	NM_001122779.2(FAM124B):c.1127A>G (p.Gln376Arg)	FAM124B (Q376R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478532	NM_001122779.2(FAM124B):c.1114T>G (p.Ser372Ala)	FAM124B (S372A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277135	NM_001122779.2(FAM124B):c.1048C>T (p.Arg350Trp)	FAM124B (R350W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091771	NM_001122779.2(FAM124B):c.910C>T (p.Pro304Ser)	FAM124B (P304S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517822	NM_001122779.2(FAM124B):c.881C>A (p.Ser294Tyr)	FAM124B (S294Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471203	NM_001122779.2(FAM124B):c.814G>A (p.Val272Ile)	FAM124B (V272I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2594618	NM_001122779.2(FAM124B):c.681C>G (p.Ser227Arg)	FAM124B (S227R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532285	NM_001122779.2(FAM124B):c.523G>A (p.Val175Met)	FAM124B (V175M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279601	NM_001122779.2(FAM124B):c.503A>G (p.Lys168Arg)	FAM124B (K168R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091770	NM_001122779.2(FAM124B):c.469G>C (p.Glu157Gln)	FAM124B (E157Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349786	NM_001122779.2(FAM124B):c.446A>C (p.Tyr149Ser)	FAM124B (Y149S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488193	NM_001122779.2(FAM124B):c.416G>A (p.Arg139Lys)	FAM124B (R139K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455903	NM_001122779.2(FAM124B):c.333T>G (p.Phe111Leu)	FAM124B (F111L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3091768	NM_001122779.2(FAM124B):c.311G>A (p.Gly104Glu)	FAM124B (G104E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397422	NM_001122779.2(FAM124B):c.307C>T (p.Arg103Trp)	FAM124B (R103W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2231986	NM_001122779.2(FAM124B):c.293C>T (p.Pro98Leu)	FAM124B (P98L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618961	NM_001122779.2(FAM124B):c.278C>T (p.Pro93Leu)	FAM124B (P93L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327280	NM_001122779.2(FAM124B):c.202T>C (p.Ser68Pro)	FAM124B (S68P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550569	NM_001122779.2(FAM124B):c.196G>A (p.Gly66Arg)	FAM124B (G66R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259593	NM_001122779.2(FAM124B):c.188G>C (p.Arg63Pro)	FAM124B (R63P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277134	NM_001122779.2(FAM124B):c.185C>T (p.Ser62Phe)	FAM124B (S62F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091767	NM_001122779.2(FAM124B):c.185C>A (p.Ser62Tyr)	FAM124B (S62Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2519365	NM_001122779.2(FAM124B):c.107G>A (p.Cys36Tyr)	FAM124B (C36Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239075	NM_001122779.2(FAM124B):c.23T>C (p.Leu8Pro)	FAM124B (L8P)	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 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 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 685052	GRCh37/hg19 2q36.1-36.3(chr2:225053410-227018472)x1	CUL3, DOCK10 +2 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: 56