ZNF649[gene] - ClinVar

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Items: 48

	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 149471	GRCh38/hg38 19q13.41(chr19:51681235-51936423)x3	FPR1, FPR2 +15 more	Copy number gain	See cases	GLikely benign
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 2455958	NM_023074.4(ZNF649):c.1444A>G (p.Lys482Glu)	ZNF649, ZNF649-AS1 (K482E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550620	NM_023074.4(ZNF649):c.1427G>A (p.Ser476Asn)	ZNF649, ZNF649-AS1 (S476N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197476	NM_023074.4(ZNF649):c.1408A>G (p.Ser470Gly)	ZNF649, ZNF649-AS1 (S470G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3197475	NM_023074.4(ZNF649):c.1394A>G (p.Asn465Ser)	ZNF649, ZNF649-AS1 (N465S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2521227	NM_023074.4(ZNF649):c.1370G>A (p.Arg457Gln)	ZNF649, ZNF649-AS1 (R457Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259056	NM_023074.4(ZNF649):c.1333C>T (p.Leu445Phe)	ZNF649, ZNF649-AS1 (L445F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255788	NM_023074.4(ZNF649):c.1237A>T (p.Thr413Ser)	ZNF649, ZNF649-AS1 (T413S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197473	NM_023074.4(ZNF649):c.1021A>G (p.Thr341Ala)	ZNF649, ZNF649-AS1 (T341A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618831	NM_023074.4(ZNF649):c.977G>C (p.Gly326Ala)	ZNF649, ZNF649-AS1 (G326A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614294	NM_023074.4(ZNF649):c.929G>A (p.Arg310Gln)	ZNF649, ZNF649-AS1 (R310Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357086	NM_023074.4(ZNF649):c.880G>A (p.Glu294Lys)	ZNF649, ZNF649-AS1 (E294K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378510	NM_023074.4(ZNF649):c.860T>A (p.Ile287Asn)	ZNF649, ZNF649-AS1 (I287N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2332735	NM_023074.4(ZNF649):c.845G>A (p.Arg282Lys)	ZNF649, ZNF649-AS1 (R282K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263941	NM_023074.4(ZNF649):c.755A>G (p.His252Arg)	ZNF649, ZNF649-AS1 (H252R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491780	NM_023074.4(ZNF649):c.673G>A (p.Glu225Lys)	ZNF649, ZNF649-AS1 (E225K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531803	NM_023074.4(ZNF649):c.619G>C (p.Val207Leu)	ZNF649, ZNF649-AS1 (V207L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265203	NM_023074.4(ZNF649):c.583G>A (p.Glu195Lys)	ZNF649, ZNF649-AS1 (E195K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495874	NM_023074.4(ZNF649):c.532C>G (p.His178Asp)	ZNF649, ZNF649-AS1 (H178D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277136	NM_023074.4(ZNF649):c.520A>C (p.Ile174Leu)	ZNF649, ZNF649-AS1 (I174L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259055	NM_023074.4(ZNF649):c.447A>C (p.Glu149Asp)	ZNF649, ZNF649-AS1 (E149D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548510	NM_023074.4(ZNF649):c.332T>C (p.Leu111Ser)	ZNF649, ZNF649-AS1 (L111S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197477	NM_023074.4(ZNF649):c.319C>A (p.His107Asn)	ZNF649, ZNF649-AS1 (H107N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494229	NM_023074.4(ZNF649):c.211G>A (p.Asp71Asn)	ZNF649, ZNF649-AS1 (D71N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481745	NM_023074.4(ZNF649):c.185A>C (p.Gln62Pro)	ZNF649, ZNF649-AS1 (Q62P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197474	NM_023074.4(ZNF649):c.10G>T (p.Ala4Ser)	ZNF649, ZNF649-AS1 (A4S)	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 1340619	GRCh37/hg19 19q13.41(chr19:51769834-52415762)x3	CEACAM18, CLDND2 +21 more	Copy number gain	not provided	GUncertain significance
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: 48