Related gene-specific medical variations for Gene (Select 55628) - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3378203	NM_017757.3(ZNF407):c.2403dup (p.Gly802fs)	LOC126862798, ZNF407 (G802fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3367746	NM_017757.3(ZNF407):c.2897T>C (p.Ile966Thr)	LOC126862798, ZNF407 (I966T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361941	NM_017757.3(ZNF407):c.4475C>T (p.Thr1492Ile)	ZNF407 (T1492I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359675	NM_017757.3(ZNF407):c.3440_3441del (p.Ser1147fs)	ZNF407 (S1147fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 3335663	NM_017757.3(ZNF407):c.3280A>T (p.Ile1094Phe)	LOC126862798, ZNF407 (I1094F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335661	NM_017757.3(ZNF407):c.2782C>T (p.Leu928Phe)	LOC126862798, ZNF407 (L928F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195546	NM_017757.3(ZNF407):c.3575A>G (p.Tyr1192Cys)	LOC126862798, ZNF407 (Y1192C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195545	NM_017757.3(ZNF407):c.3412A>G (p.Met1138Val)	LOC126862798, ZNF407 (M1138V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195544	NM_017757.3(ZNF407):c.3275A>G (p.Lys1092Arg)	LOC126862798, ZNF407 (K1092R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195543	NM_017757.3(ZNF407):c.3148G>A (p.Ala1050Thr)	LOC126862798, ZNF407 (A1050T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195542	NM_017757.3(ZNF407):c.2896A>G (p.Ile966Val)	LOC126862798, ZNF407 (I966V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3195540	NM_017757.3(ZNF407):c.2885G>A (p.Arg962His)	LOC126862798, ZNF407 (R962H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3195539	NM_017757.3(ZNF407):c.2588C>T (p.Thr863Ile)	LOC126862798, ZNF407 (T863I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065196	NM_017757.3(ZNF407):c.3442G>T (p.Val1148Leu)	LOC126862798, ZNF407 (V1148L)	Single nucleotide variant (missense variant)	Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies	GUncertain significance
Select item 3036301	NM_017757.3(ZNF407):c.2619C>T (p.His873=)	LOC126862798, ZNF407	Single nucleotide variant (synonymous variant)	ZNF407-related disorder	GLikely benign
Select item 2662473	NM_017757.3(ZNF407):c.3430G>A (p.Ala1144Thr)	LOC126862798, ZNF407 (A1144T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2623434	NM_017757.3(ZNF407):c.2933A>G (p.Asp978Gly)	LOC126862798, ZNF407 (D978G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2602245	NM_017757.3(ZNF407):c.2717G>A (p.Arg906Gln)	LOC126862798, ZNF407 (R906Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590400	NM_017757.3(ZNF407):c.2780G>A (p.Ser927Asn)	LOC126862798, ZNF407 (S927N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2561370	NM_017757.3(ZNF407):c.3549G>A (p.Met1183Ile)	LOC126862798, ZNF407 (M1183I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546363	NM_017757.3(ZNF407):c.3292G>C (p.Glu1098Gln)	LOC126862798, ZNF407 (E1098Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545433	NM_017757.3(ZNF407):c.2389A>C (p.Ile797Leu)	LOC126862798, ZNF407 (I797L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2504816	NM_017757.3(ZNF407):c.3427T>C (p.Cys1143Arg)	LOC126862798, ZNF407 (C1143R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2475448	NM_017757.3(ZNF407):c.2915A>G (p.Asn972Ser)	LOC126862798, ZNF407 (N972S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333469	NM_017757.3(ZNF407):c.2877G>T (p.Lys959Asn)	LOC126862798, ZNF407 (K959N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265760	NM_017757.3(ZNF407):c.3476A>G (p.Asn1159Ser)	LOC126862798, ZNF407 (N1159S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2243915	NM_017757.3(ZNF407):c.2752G>A (p.Asp918Asn)	LOC126862798, ZNF407 (D918N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236025	NM_017757.3(ZNF407):c.3122C>A (p.Thr1041Lys)	LOC126862798, ZNF407 (T1041K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2049111	NM_017757.3(ZNF407):c.3010G>A (p.Asp1004Asn)	LOC126862798, ZNF407 (D1004N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1804591	NM_017757.3(ZNF407):c.2761G>T (p.Val921Phe)	LOC126862798, ZNF407 (V921F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1701702	NM_017757.3(ZNF407):c.3758C>T (p.Thr1253Met)	ZNF407 (T1253M)	Single nucleotide variant (missense variant)	Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies	GUncertain significance
Select item 1701701	NM_017757.3(ZNF407):c.1282C>T (p.Arg428Cys)	ZNF407 (R428C)	Single nucleotide variant (missense variant)	Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies	GUncertain significance
Select item 1336694	NM_017757.3(ZNF407):c.3050A>G (p.Asn1017Ser)	LOC126862798, ZNF407 (N1017S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1336071	NM_017757.3(ZNF407):c.2552C>T (p.Thr851Met)	LOC126862798, ZNF407 (T851M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1184318	NM_017757.3(ZNF407):c.6730G>A (p.Glu2244Lys)	ZNF407 (E2244K)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1184299	NM_017757.3(ZNF407):c.41A>G (p.Glu14Gly)	ZNF407 (E14G)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 996993	NM_017757.3(ZNF407):c.4709A>C (p.Lys1570Thr)	ZNF407 (K1570T)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 816040	GRCh37/hg19 18q22.3(chr18:72259777-72833169)x3	ZNF407	Copy number gain	not provided	GLikely benign
Select item 795089	NM_017757.3(ZNF407):c.2997C>T (p.Phe999=)	LOC126862798, ZNF407	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 793406	NM_017757.3(ZNF407):c.3069G>A (p.Glu1023=)	LOC126862798, ZNF407	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 788811	NM_017757.3(ZNF407):c.3059T>G (p.Leu1020Trp)	LOC126862798, ZNF407 (L1020W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 771506	NM_017757.3(ZNF407):c.3519C>G (p.Val1173=)	LOC126862798, ZNF407	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 756348	NM_017757.3(ZNF407):c.3438C>T (p.Asp1146=)	LOC126862798, ZNF407	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738092	NM_017757.3(ZNF407):c.3036A>G (p.Thr1012=)	LOC126862798, ZNF407	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734420	NM_017757.3(ZNF407):c.2418A>G (p.Gln806=)	LOC126862798, ZNF407	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 732308	NM_017757.3(ZNF407):c.2550G>A (p.Arg850=)	LOC126862798, ZNF407	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 724407	NM_017757.3(ZNF407):c.3150A>G (p.Ala1050=)	LOC126862798, ZNF407	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 723449	NM_017757.3(ZNF407):c.3013G>C (p.Val1005Leu)	LOC126862798, ZNF407 (V1005L)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 723049	NM_017757.3(ZNF407):c.3042A>G (p.Thr1014=)	LOC126862798, ZNF407	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 689354	NM_017757.3(ZNF407):c.2884C>G (p.Arg962Gly)	LOC126862798, ZNF407 (R962G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 689344	NM_017757.3(ZNF407):c.2425T>C (p.Ser809Pro)	LOC126862798, ZNF407 (S809P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 687527	GRCh37/hg19 18q22.3(chr18:72256743-72387735)x3	ZNF407	Copy number gain	not provided	GUncertain significance
Select item 545668	NM_017757.3(ZNF407):c.2814_2816dup (p.Val939dup)	LOC126862798, ZNF407	Duplication (inframe_insertion)	Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies +1 more	GPathogenic
Select item 442738	GRCh37/hg19 18q22.3(chr18:72388847-72570928)x3	ZNF407	Copy number gain	See cases	GUncertain significance
Select item 437375	NM_017757.3(ZNF407):c.2493T>A (p.Asp831Glu)	LOC126862798, ZNF407 (D831E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 437363	NM_017757.3(ZNF407):c.3285T>C (p.Ile1095=)	LOC126862798, ZNF407	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 437362	NM_017757.3(ZNF407):c.3021C>T (p.Ser1007=)	LOC126862798, ZNF407	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 212665	NM_017757.3(ZNF407):c.3153C>T (p.Cys1051=)	LOC126862798, ZNF407	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 212664	NM_017757.3(ZNF407):c.3072T>G (p.Phe1024Leu)	LOC126862798, ZNF407 (F1024L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 212663	NM_017757.3(ZNF407):c.2903C>T (p.Ala968Val)	LOC126862798, ZNF407 (A968V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 212662	NM_017757.3(ZNF407):c.2822T>C (p.Met941Thr)	LOC126862798, ZNF407 (M941T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 212661	NM_017757.3(ZNF407):c.2775G>T (p.Gly925=)	LOC126862798, ZNF407	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 130820	NM_017757.3(ZNF407):c.3075T>C (p.Ser1025=)	LOC126862798, ZNF407	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 130819	NM_017757.3(ZNF407):c.2915A>C (p.Asn972Thr)	LOC126862798, ZNF407 (N972T)	Single nucleotide variant (missense variant)	not provided	GBenign

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Links from Gene

Items: 64