ClinVar for Gene (Select 147872) - ClinVar

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Links from Gene

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3287372	NM_144688.5(KASH5):c.835A>G (p.Lys279Glu)	KASH5 (K279E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287371	NM_144688.5(KASH5):c.586C>T (p.Arg196Cys)	KASH5 (R196C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287370	NM_144688.5(KASH5):c.119C>T (p.Thr40Met)	KASH5 (T40M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287369	NM_144688.5(KASH5):c.53G>A (p.Arg18Gln)	KASH5 (R18Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248486	NC_000019.9:g.(?_49713446)_(50413064_?)dup	ADM5, AKT1S1 +35 more	Duplication	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 3112723	NM_144688.5(KASH5):c.905T>C (p.Ile302Thr)	KASH5 (I302T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112722	NM_144688.5(KASH5):c.901C>T (p.Leu301Phe)	KASH5 (L301F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112721	NM_144688.5(KASH5):c.853G>A (p.Ala285Thr)	KASH5 (A285T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112720	NM_144688.5(KASH5):c.740G>A (p.Arg247Gln)	KASH5 (R247Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112719	NM_144688.5(KASH5):c.739C>T (p.Arg247Trp)	KASH5 (R247W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112718	NM_144688.5(KASH5):c.587G>T (p.Arg196Leu)	KASH5 (R196L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112717	NM_144688.5(KASH5):c.38C>T (p.Ala13Val)	KASH5 (A13V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112716	NM_144688.5(KASH5):c.373G>T (p.Ala125Ser)	KASH5 (A125S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112715	NM_144688.5(KASH5):c.359C>T (p.Thr120Ile)	KASH5 (T120I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112714	NM_144688.5(KASH5):c.355G>A (p.Glu119Lys)	KASH5 (E119K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112713	NM_144688.5(KASH5):c.217C>T (p.Arg73Cys)	KASH5 (R73C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112712	NM_144688.5(KASH5):c.212A>G (p.Asp71Gly)	KASH5 (D71G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112711	NM_144688.5(KASH5):c.176C>T (p.Ala59Val)	KASH5 (A59V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112710	NM_144688.5(KASH5):c.167A>G (p.Gln56Arg)	KASH5 (Q56R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112709	NM_144688.5(KASH5):c.1628C>T (p.Pro543Leu)	KASH5 (P543L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112708	NM_144688.5(KASH5):c.1627C>T (p.Pro543Ser)	KASH5 (P543S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112707	NM_144688.5(KASH5):c.1450C>T (p.Arg484Trp)	KASH5 (R484W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112706	NM_144688.5(KASH5):c.1265G>A (p.Gly422Glu)	KASH5 (G422E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112705	NM_144688.5(KASH5):c.1221G>C (p.Glu407Asp)	KASH5 (E407D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3112704	NM_144688.5(KASH5):c.1048G>A (p.Gly350Arg)	KASH5, LOC130064914 (G350R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067195	NM_144688.5(KASH5):c.190G>A (p.Val64Met)	KASH5 (V64M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3064402	NM_144688.5(KASH5):c.302T>C (p.Met101Thr)	KASH5 (M101T)	Single nucleotide variant (missense variant)	Spermatogenic failure 88	GUncertain significance
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
Select item 3049865	NM_144688.5(KASH5):c.1556G>A (p.Arg519Gln)	KASH5 (R519Q)	Single nucleotide variant (missense variant)	KASH5-related disorder	GLikely benign
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 2650239	NM_144688.5(KASH5):c.1383C>A (p.Leu461=)	KASH5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650238	NM_144688.5(KASH5):c.1116G>A (p.Ser372=)	KASH5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2626776	NM_144688.5(KASH5):c.1271_1274del (p.Arg424fs)	KASH5 (R424fs)	Deletion (frameshift variant)	Spermatogenic failure 88 +1 more	GPathogenic
Select item 2626774	NM_144688.5(KASH5):c.-95-2_798+248del	KASH5	Deletion (splice acceptor variant +2 more)	Spermatogenic failure 88	GPathogenic
Select item 2626773	NM_144688.5(KASH5):c.981_982del (p.Arg327fs)	KASH5 (R327fs)	Microsatellite (frameshift variant)	Spermatogenic failure 88	GPathogenic
Select item 2626772	NM_144688.5(KASH5):c.590T>C (p.Leu197Pro)	KASH5 (L197P)	Single nucleotide variant (missense variant)	Premature ovarian failure 22 +1 more	GPathogenic
Select item 2626771	NM_144688.5(KASH5):c.1604T>A (p.Leu535Gln)	KASH5	Single nucleotide variant (missense variant)	Spermatogenic failure 88	GPathogenic
Select item 2597508	NM_144688.5(KASH5):c.124G>A (p.Glu42Lys)	KASH5 (E42K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590162	NM_144688.5(KASH5):c.1406G>A (p.Arg469His)	KASH5 (R469H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2547101	NM_144688.5(KASH5):c.1052C>A (p.Pro351His)	KASH5 (P351H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542053	NM_144688.5(KASH5):c.1108C>T (p.Pro370Ser)	KASH5 (P370S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537508	NM_144688.5(KASH5):c.331C>T (p.His111Tyr)	KASH5 (H111Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519752	NM_144688.5(KASH5):c.1522C>T (p.Leu508Phe)	KASH5 (L508F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458239	NM_144688.5(KASH5):c.1261G>A (p.Gly421Arg)	KASH5 (G421R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458089	NM_144688.5(KASH5):c.58C>T (p.Arg20Trp)	KASH5 (R20W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455096	NM_144688.5(KASH5):c.1556G>C (p.Arg519Pro)	KASH5 (R519P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1346497	NC_000019.9:g.(?_49519325)_(50366015_?)dup	ADM5, ALDH16A1 +45 more	Duplication	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 1328949	NM_144688.5(KASH5):c.1146+5G>A	KASH5	Single nucleotide variant (intron variant)	Azoospermia	GPathogenic
Select item 1232307	NM_144688.5(KASH5):c.747G>A (p.Ala249=)	KASH5	Single nucleotide variant (synonymous variant)	Genetic non-acquired premature ovarian failure	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 686542	GRCh37/hg19 19q13.33(chr19:49600909-51366070)x3	C19orf81, CD37 +66 more	Copy number gain	not provided	GUncertain significance
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 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 58