ZNHIT1[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129998995, LOC129998996 +2212 more	Copy number gain	See cases	GPathogenic
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	UFSP1, VGF +299 more	Copy number gain	See cases	GPathogenic
Select item 146501	GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1	ACHE, ACTL6B +309 more	Copy number loss	See cases	GPathogenic
Select item 149050	GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3	ACHE, ACTL6B +283 more	Copy number gain	See cases	GUncertain significance
Select item 60281	GRCh38/hg38 7q22.1(chr7:100419914-102482826)x1	ACHE, ACTL6B +207 more	Copy number loss	See cases	GPathogenic
Select item 147676	GRCh38/hg38 7q22.1(chr7:101130561-101255628)x3	AP1S1, CLDN15 +23 more	Copy number gain	See cases	GBenign
Select item 1267931	NM_006349.3(ZNHIT1):c.-25T>C	ZNHIT1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1320800	NM_006349.3(ZNHIT1):c.1A>G (p.Met1Val)	PLOD3, ZNHIT1 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2286662	NM_006349.3(ZNHIT1):c.71G>A (p.Arg24Gln)	ZNHIT1 (R24Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297250	NM_006349.3(ZNHIT1):c.88C>T (p.Arg30Trp)	ZNHIT1 (R30W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466645	NM_006349.3(ZNHIT1):c.181G>A (p.Asp61Asn)	ZNHIT1 (D61N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538668	NM_006349.3(ZNHIT1):c.185C>T (p.Ala62Val)	ZNHIT1 (A62V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534021	NM_006349.3(ZNHIT1):c.272A>T (p.Gln91Leu)	ZNHIT1 (Q91L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396174	NM_006349.3(ZNHIT1):c.317C>T (p.Ala106Val)	ZNHIT1 (A106V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339860	NM_006349.3(ZNHIT1):c.326C>A (p.Pro109Gln)	ZNHIT1 (P109Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228365	NM_006349.3(ZNHIT1):c.331C>T (p.Arg111Trp)	ZNHIT1 (R111W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224266	NM_006349.3(ZNHIT1):c.400C>T (p.Arg134Trp)	ZNHIT1 (R134W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062972	GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1	ACHE, ACTL6B +93 more	Copy number loss	not specified	GLikely pathogenic
Select item 3062968	GRCh37/hg19 7q22.1(chr7:100454649-101886704)x1	ACHE, AP1S1 +20 more	Copy number loss	not specified	GPathogenic
Select item 2685254	GRCh37/hg19 7q22.1(chr7:99114000-101878272)x1	CYP3A4, CYP3A43 +73 more	Copy number loss	not provided	GPathogenic
Select item 2684496	GRCh37/hg19 7q22.1(chr7:100532371-101116321)x3	AP1S1, CLDN15 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527380	GRCh37/hg19 7q22.1-31.31(chr7:100676872-119156160)	ALKBH4, ANKRD7 +95 more	Copy number loss	not specified	GPathogenic
Select item 1527379	GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308)	ACHE, ACTL6B +123 more	Copy number loss	not specified	GPathogenic
Select item 929826	GRCh37/hg19 7q22.1(chr7:99593346-102470275)x1	ACHE, ACTL6B +77 more	Copy number loss	See cases	GLikely pathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563415	GRCh37/hg19 7q22.1(chr7:98847725-102472176)x1	CYP3A43, GJC3 +99 more	Copy number loss	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 34