ClinVar for Gene (Select 54680) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3199166	NM_017953.4(ZNHIT6):c.804G>T (p.Gln268His)	ZNHIT6 (Q229H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199165	NM_017953.4(ZNHIT6):c.590C>T (p.Thr197Ile)	ZNHIT6 (T158I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199164	NM_017953.4(ZNHIT6):c.481A>G (p.Ile161Val)	ZNHIT6 (I122V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199163	NM_017953.4(ZNHIT6):c.1318A>G (p.Thr440Ala)	ZNHIT6 (T401A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199162	NM_017953.4(ZNHIT6):c.1162C>T (p.Arg388Cys)	ZNHIT6 (R388C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024572	GRCh37/hg19 1p31.1-22.3(chr1:73616197-87012961)x1	DNAJB4, DNASE2B +52 more	Copy number loss	not provided	GLikely pathogenic
Select item 2612938	NM_017953.4(ZNHIT6):c.1346A>G (p.Asn449Ser)	ZNHIT6 (N410S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2605415	NM_017953.4(ZNHIT6):c.577A>C (p.Ile193Leu)	ZNHIT6 (I154L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570433	NM_017953.4(ZNHIT6):c.121G>C (p.Glu41Gln)	ZNHIT6 (E41Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560099	NM_017953.4(ZNHIT6):c.1327G>A (p.Val443Met)	ZNHIT6 (V443M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556479	NM_017953.4(ZNHIT6):c.816G>C (p.Met272Ile)	ZNHIT6 (M233I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554144	NM_017953.4(ZNHIT6):c.653C>T (p.Ser218Leu)	ZNHIT6 (S179L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533252	NM_017953.4(ZNHIT6):c.218T>G (p.Met73Arg)	ZNHIT6 (M73R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483057	NM_017953.4(ZNHIT6):c.352A>C (p.Lys118Gln)	ZNHIT6 (K118Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473541	NM_017953.4(ZNHIT6):c.1186C>T (p.Arg396Cys)	ZNHIT6 (R357C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473066	NM_017953.4(ZNHIT6):c.1115A>G (p.Glu372Gly)	ZNHIT6 (E372G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456164	NM_017953.4(ZNHIT6):c.863C>T (p.Ala288Val)	ZNHIT6 (A288V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408455	NM_017953.4(ZNHIT6):c.701G>A (p.Arg234His)	ZNHIT6 (R234H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395781	NM_017953.4(ZNHIT6):c.368G>A (p.Ser123Asn)	ZNHIT6 (S123N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385426	NM_017953.4(ZNHIT6):c.1187G>A (p.Arg396His)	ZNHIT6 (R357H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377195	NM_017953.4(ZNHIT6):c.974A>G (p.Asn325Ser)	ZNHIT6 (N286S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375908	NM_017953.4(ZNHIT6):c.516A>G (p.Ile172Met)	ZNHIT6 (I172M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344947	NM_017953.4(ZNHIT6):c.773G>A (p.Arg258Gln)	ZNHIT6 (R219Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311753	NM_017953.4(ZNHIT6):c.221A>G (p.Asp74Gly)	ZNHIT6 (D74G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300306	NM_017953.4(ZNHIT6):c.866A>G (p.Asp289Gly)	ZNHIT6 (D289G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299666	NM_017953.4(ZNHIT6):c.368G>C (p.Ser123Thr)	ZNHIT6 (S123T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299665	NM_017953.4(ZNHIT6):c.30G>C (p.Lys10Asn)	ZNHIT6 (K10N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281645	NM_017953.4(ZNHIT6):c.931A>G (p.Asn311Asp)	ZNHIT6 (N311D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227466	NM_017953.4(ZNHIT6):c.314C>T (p.Pro105Leu)	ZNHIT6 (P105L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205563	NM_017953.4(ZNHIT6):c.1262A>T (p.Asp421Val)	ZNHIT6 (D382V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807925	GRCh37/hg19 1p22.3(chr1:85878203-86849716)x1	CCN1, COL24A1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
Select item 1341227	GRCh37/hg19 1p22.3(chr1:85761564-86703902)x1	CCN1, COL24A1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 979897	GRCh37/hg19 1p31.1-22.2(chr1:80804502-89490384)x3	LMO4, CLCA4 +33 more	Copy number gain	not provided	GLikely pathogenic
Select item 684460	Single allele	ACADM, ADGRL2 +85 more	Deletion	not provided	Gnot provided
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442811	GRCh37/hg19 1p22.3(chr1:86027015-86606921)x3	CCN1, COL24A1 +2 more	Copy number gain	See cases	GUncertain significance
Select item 442708	GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1	ACADM, ADGRL2 +94 more	Copy number loss	See cases	GPathogenic
Select item 442548	GRCh37/hg19 1p22.3(chr1:85761564-86703902)x1	CCN1, COL24A1 +2 more	Copy number loss	See cases	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 442121	GRCh37/hg19 1p22.3(chr1:86006704-86727751)x3	CCN1, COL24A1 +2 more	Copy number gain	See cases	GLikely benign
Select item 441908	GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1	ACADM, ADGRL2 +80 more	Copy number loss	See cases	GPathogenic
Select item 150045	GRCh38/hg38 1p31.1-22.2(chr1:76419302-88628464)x1	ADGRL2, ADGRL4 +241 more	Copy number loss	See cases	GPathogenic
Select item 148214	GRCh38/hg38 1p22.3(chr1:85662168-86192743)x3	COL24A1, LOC129930879 +8 more	Copy number gain	See cases	GLikely benign
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	LOC132088736, LOC132088737 +557 more	Copy number loss	See cases	GPathogenic
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LOC129930966, LOC129930967 +548 more	Copy number gain	See cases	GPathogenic

ClinVar

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Germline classification

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Molecular consequence

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Links from Gene

Items: 47