16656[HGNC] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 155383	GRCh38/hg38 19q13.41(chr19:51202361-51993020)x3	C19orf84, CD33 +62 more	Copy number gain	See cases	GUncertain significance
Select item 154637	GRCh38/hg38 19q13.41(chr19:51769103-52124150)x3	FPR2, FPR3 +20 more	Copy number gain	See cases	GBenign
Select item 157458	NM_001005738.1(FPR2):c.290_344331dup	FPR2, FPR3 +20 more	Duplication	Gestational diabetes mellitus uncontrolled	Gnot provided
Select item 154882	GRCh38/hg38 19q13.41(chr19:51785545-52075049)x3	FPR3, LOC126862921 +16 more	Copy number gain	See cases	GLikely benign
Select item 58803	GRCh38/hg38 19q13.41(chr19:51824349-52113443)x3	FPR3, LOC126862921 +18 more	Copy number gain	See cases	GUncertain significance
Select item 147613	GRCh38/hg38 19q13.41(chr19:51865544-52113443)x3	LOC126862922, LOC126862923 +16 more	Copy number gain	See cases	GBenign
Select item 3195353	NM_021632.4(ZNF350):c.1586C>G (p.Thr529Arg)	ZNF350, ZNF350-AS1 (T529R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650380	NM_021632.4(ZNF350):c.1570G>A (p.Val524Ile)	ZNF350, ZNF350-AS1 (V524I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3195352	NM_021632.4(ZNF350):c.1456C>T (p.Leu486Phe)	ZNF350, ZNF350-AS1 (L486F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469052	NM_021632.4(ZNF350):c.1450G>A (p.Val484Ile)	ZNF350, ZNF350-AS1 (V484I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2360608	NM_021632.4(ZNF350):c.1438G>A (p.Ala480Thr)	ZNF350, ZNF350-AS1 (A480T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712253	NM_021632.4(ZNF350):c.1379C>T (p.Ala460Val)	ZNF350, ZNF350-AS1 (A460V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2391934	NM_021632.4(ZNF350):c.1375G>A (p.Gly459Arg)	ZNF350, ZNF350-AS1 (G459R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348482	NM_021632.4(ZNF350):c.1328G>C (p.Ser443Thr)	ZNF350, ZNF350-AS1 (S443T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195351	NM_021632.4(ZNF350):c.1322G>A (p.Arg441Lys)	ZNF350, ZNF350-AS1 (R441K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400749	NM_021632.4(ZNF350):c.1227A>C (p.Lys409Asn)	ZNF350, ZNF350-AS1 (K409N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460241	NM_021632.4(ZNF350):c.1213A>G (p.Asn405Asp)	ZNF350, ZNF350-AS1 (N405D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599711	NM_021632.4(ZNF350):c.1205A>G (p.Tyr402Cys)	ZNF350, ZNF350-AS1 (Y402C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650381	NM_021632.4(ZNF350):c.1179A>C (p.Gln393His)	ZNF350, ZNF350-AS1 (Q393H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2616762	NM_021632.4(ZNF350):c.1145C>G (p.Ala382Gly)	ZNF350, ZNF350-AS1 (A382G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466612	NM_021632.4(ZNF350):c.1144G>A (p.Ala382Thr)	ZNF350, ZNF350-AS1 (A382T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335581	NM_021632.4(ZNF350):c.1130G>A (p.Ser377Asn)	ZNF350, ZNF350-AS1 (S377N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335580	NM_021632.4(ZNF350):c.1097G>A (p.Arg366Lys)	ZNF350, ZNF350-AS1 (R366K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195350	NM_021632.4(ZNF350):c.1084A>G (p.Ile362Val)	ZNF350, ZNF350-AS1 (I362V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588441	NM_021632.4(ZNF350):c.1031C>T (p.Thr344Met)	ZNF350, ZNF350-AS1 (T344M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232772	NM_021632.4(ZNF350):c.1025G>A (p.Gly342Glu)	ZNF350, ZNF350-AS1 (G342E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337229	NM_021632.4(ZNF350):c.1016T>G (p.Phe339Cys)	ZNF350, ZNF350-AS1 (F339C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375878	NM_021632.4(ZNF350):c.929G>A (p.Arg310Gln)	ZNF350, ZNF350-AS1 (R310Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335576	NM_021632.4(ZNF350):c.869A>G (p.Tyr290Cys)	ZNF350, ZNF350-AS1 (Y290C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360768	NM_021632.4(ZNF350):c.827G>A (p.Arg276Gln)	ZNF350, ZNF350-AS1 (R276Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512158	NM_021632.4(ZNF350):c.703A>G (p.Arg235Gly)	ZNF350, ZNF350-AS1 (R235G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335577	NM_021632.4(ZNF350):c.686C>A (p.Thr229Lys)	ZNF350, ZNF350-AS1 (T229K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594696	NM_021632.4(ZNF350):c.644T>A (p.Phe215Tyr)	ZNF350, ZNF350-AS1 (F215Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472797	NM_021632.4(ZNF350):c.596C>T (p.Thr199Ile)	ZNF350, ZNF350-AS1 (T199I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335578	NM_021632.4(ZNF350):c.395G>A (p.Arg132His)	ZNF350, ZNF350-AS1 (R132H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2395959	NM_021632.4(ZNF350):c.340C>A (p.His114Asn)	ZNF350, ZNF350-AS1 (H114N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396669	NM_021632.4(ZNF350):c.335T>C (p.Ile112Thr)	ZNF350, ZNF350-AS1 (I112T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292687	NM_021632.4(ZNF350):c.295A>G (p.Arg99Gly)	ZNF350, ZNF350-AS1 (R99G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335582	NM_021632.4(ZNF350):c.244T>A (p.Trp82Arg)	ZNF350, ZNF350-AS1 (W82R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517769	NM_021632.4(ZNF350):c.211G>A (p.Asp71Asn)	ZNF350, ZNF350-AS1 (D71N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309267	NM_021632.4(ZNF350):c.205A>G (p.Ile69Val)	ZNF350, ZNF350-AS1 (I69V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231911	NM_021632.4(ZNF350):c.161C>T (p.Pro54Leu)	ZNF350, ZNF350-AS1 (P54L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323911	NM_021632.4(ZNF350):c.79G>A (p.Ala27Thr)	ZNF350, ZNF350-AS1 (A27T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 1526670	GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438)	FPR3, ZNF577 +115 more	Copy number gain	not specified	GLikely pathogenic
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic
Select item 221886	GRCh37/hg19 19q13.41(chr19:52272131-52588718)x3	ZNF613, ZNF614 +8 more	Copy number gain	Premature ovarian failure	GBenign

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Items: 58