28431[HGNC] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60184	GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1	ACMSD, AMER3 +391 more	Copy number loss	See cases	GPathogenic
Select item 147544	GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1	ACMSD, AMER3 +336 more	Copy number loss	See cases	GPathogenic
Select item 783984	NM_001508.3(GPR39):c.879C>A (p.Ala293=)	GPR39, LYPD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3101767	NM_001508.3(GPR39):c.880G>T (p.Val294Leu)	GPR39, LYPD1 (V294L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2492973	NM_001508.3(GPR39):c.955T>C (p.Phe319Leu)	GPR39, LYPD1 (F319L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2621004	NM_001508.3(GPR39):c.1040C>T (p.Ser347Phe)	GPR39, LYPD1 (S347F)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2332106	NM_001508.3(GPR39):c.1093C>A (p.Leu365Met)	GPR39, LYPD1 (L365M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2332107	NM_001508.3(GPR39):c.1094T>G (p.Leu365Arg)	GPR39, LYPD1 (L365R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2601732	NM_001508.3(GPR39):c.1097A>C (p.Gln366Pro)	GPR39, LYPD1 (Q366P)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2259247	NM_001508.3(GPR39):c.1097A>G (p.Gln366Arg)	GPR39, LYPD1 (Q366R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 218591	NM_001508.3(GPR39):c.1132G>A (p.Ala378Thr)	GPR39, LYPD1 (A378T)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2329825	NM_001508.3(GPR39):c.1135C>T (p.His379Tyr)	GPR39, LYPD1 (H379Y)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3101761	NM_001508.3(GPR39):c.1149C>A (p.Asp383Glu)	GPR39, LYPD1 (D383E)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2242502	NM_001508.3(GPR39):c.1160T>G (p.Phe387Cys)	GPR39, LYPD1 (F387C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2221234	NM_001508.3(GPR39):c.1172C>G (p.Pro391Arg)	GPR39, LYPD1 (P391R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2399650	NM_001508.3(GPR39):c.1176G>T (p.Leu392Phe)	GPR39, LYPD1 (L392F)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2399651	NM_001508.3(GPR39):c.1177C>T (p.Leu393Phe)	GPR39, LYPD1 (L393F)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2522288	NM_001508.3(GPR39):c.1189C>T (p.Arg397Trp)	GPR39, LYPD1 (R397W)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2264168	NM_001508.3(GPR39):c.1230A>T (p.Leu410Phe)	GPR39, LYPD1 (L410F)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 712363	NM_001508.3(GPR39):c.1264_1266dup (p.Lys422dup)	GPR39, LYPD1	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2600185	NM_001508.3(GPR39):c.1268C>G (p.Ser423Cys)	GPR39, LYPD1 (S423C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3101762	NM_001508.3(GPR39):c.1301A>G (p.Asn434Ser)	GPR39, LYPD1 (N434S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2382895	NM_001508.3(GPR39):c.1309G>T (p.Ala437Ser)	GPR39, LYPD1 (A437S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3101763	NM_001508.3(GPR39):c.1316C>T (p.Pro439Leu)	GPR39, LYPD1 (P439L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3121675	NM_144586.7(LYPD1):c.421T>G (p.Cys141Gly)	GPR39, LYPD1 (C141G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121674	NM_144586.7(LYPD1):c.379A>C (p.Thr127Pro)	GPR39, LYPD1 (T75P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591370	NM_144586.7(LYPD1):c.128T>C (p.Ile43Thr)	LYPD1 (I59T +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
Select item 3062641	GRCh37/hg19 2q21.2(chr2:133297987-133875512)x3	GPR39, LYPD1 +1 more	Copy number gain	not specified	GUncertain significance
Select item 2684708	GRCh37/hg19 2q21.1-21.2(chr2:131777624-134871884)x1	ARHGEF4, CCDC74A +11 more	Copy number loss	not provided	GUncertain significance
Select item 1808646	GRCh37/hg19 2q21.2(chr2:133281344-134072006)x1	GPR39, LYPD1 +1 more	Copy number loss	not provided	GUncertain significance
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 1679114	GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	EPB41L5, ERCC3 +120 more	Copy number gain	2q13q22.3 microduplication syndrome	GPathogenic
Select item 1340017	GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3	GPR39, IL1F10 +122 more	Copy number gain	not provided	GPathogenic
Select item 1339988	GRCh37/hg19 2q14.3-22.2(chr2:122699106-143799629)x1	ACMSD, AMER3 +64 more	Copy number loss	not provided	GPathogenic
Select item 929341	GRCh37/hg19 2q14.3-21.2(chr2:122952356-133826358)x1	AMER3, AMMECR1L +44 more	Copy number loss	See cases	GLikely pathogenic
Select item 685771	GRCh37/hg19 2q21.1-21.2(chr2:130916858-134213436)x3	AMER3, IMP4 +23 more	Copy number gain	not provided	GUncertain significance
Select item 562552	GRCh37/hg19 2q21.2(chr2:133295354-133535250)x3	NCKAP5, LYPD1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443178	GRCh37/hg19 2q21.1-21.2(chr2:130920847-134220436)x3	AMER3, ARHGEF4 +23 more	Copy number gain	See cases	GUncertain significance
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 441676	GRCh37/hg19 2q14.2-22.1(chr2:120571363-141627287)x1	ACMSD, AMER3 +74 more	Copy number loss	See cases	GPathogenic

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Items: 44