ZNF792[gene] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 153499	GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1	ANKRD27, CD22 +193 more	Copy number loss	See cases	GPathogenic
Select item 3198447	NM_175872.5(ZNF792):c.1891G>T (p.Val631Phe)	ZNF792 (V631F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311210	NM_175872.5(ZNF792):c.1861C>A (p.Leu621Ile)	ZNF792 (L621I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311209	NM_175872.5(ZNF792):c.1855T>A (p.Leu619Met)	ZNF792 (L619M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198446	NM_175872.5(ZNF792):c.1769T>G (p.Met590Arg)	ZNF792 (M590R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364864	NM_175872.5(ZNF792):c.1768A>G (p.Met590Val)	ZNF792 (M590V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266746	NM_175872.5(ZNF792):c.1708G>A (p.Ala570Thr)	ZNF792 (A570T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198445	NM_175872.5(ZNF792):c.1675G>T (p.Asp559Tyr)	ZNF792 (D559Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490437	NM_175872.5(ZNF792):c.1675G>C (p.Asp559His)	ZNF792 (D559H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568569	NM_175872.5(ZNF792):c.1595G>A (p.Arg532Gln)	ZNF792 (R532Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231043	NM_175872.5(ZNF792):c.1591G>A (p.Glu531Lys)	ZNF792 (E531K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259583	NM_175872.5(ZNF792):c.1588G>A (p.Gly530Ser)	ZNF792 (G530S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649711	NM_175872.5(ZNF792):c.1587C>T (p.Thr529=)	ZNF792	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2210026	NM_175872.5(ZNF792):c.1574G>A (p.Arg525Gln)	ZNF792 (R525Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204883	NM_175872.5(ZNF792):c.1511G>A (p.Arg504Gln)	ZNF792 (R504Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210023	NM_175872.5(ZNF792):c.1393C>G (p.Leu465Val)	ZNF792 (L465V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272556	NM_175872.5(ZNF792):c.1382G>A (p.Arg461Gln)	ZNF792 (R461Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592755	NM_175872.5(ZNF792):c.1339G>A (p.Glu447Lys)	ZNF792 (E447K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259579	NM_175872.5(ZNF792):c.1166C>T (p.Thr389Met)	ZNF792 (T389M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278919	NM_175872.5(ZNF792):c.1132C>T (p.Arg378Cys)	ZNF792 (R378C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259580	NM_175872.5(ZNF792):c.1021G>C (p.Gly341Arg)	ZNF792 (G341R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268557	NM_175872.5(ZNF792):c.1000G>A (p.Gly334Ser)	ZNF792 (G334S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456166	NM_175872.5(ZNF792):c.986G>A (p.Arg329His)	ZNF792 (R329H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198456	NM_175872.5(ZNF792):c.985C>A (p.Arg329Ser)	ZNF792 (R329S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377957	NM_175872.5(ZNF792):c.985C>T (p.Arg329Cys)	ZNF792 (R329C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198455	NM_175872.5(ZNF792):c.953T>G (p.Phe318Cys)	ZNF792 (F318C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595759	NM_175872.5(ZNF792):c.926C>T (p.Pro309Leu)	ZNF792 (P309L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198454	NM_175872.5(ZNF792):c.883G>A (p.Ala295Thr)	ZNF792 (A295T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227182	NM_175872.5(ZNF792):c.880G>A (p.Ala294Thr)	ZNF792 (A294T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259581	NM_175872.5(ZNF792):c.805C>T (p.Leu269Phe)	ZNF792 (L269F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594259	NM_175872.5(ZNF792):c.774A>T (p.Glu258Asp)	ZNF792 (E258D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2267794	NM_175872.5(ZNF792):c.739T>G (p.Phe247Val)	ZNF792 (F247V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289969	NM_175872.5(ZNF792):c.730G>A (p.Val244Met)	ZNF792 (V244M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2404618	NM_175872.5(ZNF792):c.724G>A (p.Glu242Lys)	ZNF792 (E242K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2282655	NM_175872.5(ZNF792):c.699C>A (p.Ser233Arg)	ZNF792 (S233R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607068	NM_175872.5(ZNF792):c.649A>G (p.Lys217Glu)	ZNF792 (K217E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2262777	NM_175872.5(ZNF792):c.636C>G (p.Cys212Trp)	ZNF792 (C212W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198453	NM_175872.5(ZNF792):c.635G>A (p.Cys212Tyr)	ZNF792 (C212Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277502	NM_175872.5(ZNF792):c.590C>T (p.Pro197Leu)	ZNF792 (P197L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2485390	NM_175872.5(ZNF792):c.580C>A (p.Gln194Lys)	ZNF792 (Q194K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259582	NM_175872.5(ZNF792):c.553C>T (p.His185Tyr)	ZNF792 (H185Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198452	NM_175872.5(ZNF792):c.546G>T (p.Gln182His)	ZNF792 (Q182H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534926	NM_175872.5(ZNF792):c.503G>A (p.Gly168Asp)	ZNF792 (G168D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198450	NM_175872.5(ZNF792):c.494A>G (p.Tyr165Cys)	ZNF792 (Y165C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263217	NM_175872.5(ZNF792):c.448C>T (p.His150Tyr)	ZNF792 (H150Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294498	NM_175872.5(ZNF792):c.431T>G (p.Ile144Ser)	ZNF792 (I144S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198449	NM_175872.5(ZNF792):c.352C>A (p.Gln118Lys)	ZNF792 (Q118K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198448	NM_175872.5(ZNF792):c.316C>T (p.Pro106Ser)	ZNF792 (P106S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259584	NM_175872.5(ZNF792):c.259G>T (p.Gly87Trp)	ZNF792 (G87W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198444	NM_175872.5(ZNF792):c.143C>G (p.Ala48Gly)	ZNF792 (A48G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198443	NM_175872.5(ZNF792):c.121G>A (p.Asp41Asn)	ZNF792 (D41N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599492	NM_175872.5(ZNF792):c.40G>A (p.Val14Met)	ZNF792 (V14M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242311	GRCh37/hg19 19q13.11-13.12(chr19:35223021-36895699)x1	ALKBH6, APLP1 +63 more	Copy number loss	not provided	GPathogenic
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2671623	Single allele	ALKBH6, APLP1 +72 more	Deletion	not provided	GPathogenic
Select item 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	ALKBH6, APLP1 +83 more	Duplication	Hereditary spastic paraplegia 75	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 625761	GRCh37/hg19 19q13.11-13.12(chr19:35043556-36316644)	ARHGAP33, ATP4A +44 more	Copy number loss	not provided	GPathogenic
Select item 625760	GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992)	ALKBH6, APLP1 +79 more	Copy number loss	Generalized epilepsy with febrile seizures plus, type 1	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 394109	GRCh37/hg19 19q12-13.12(chr19:30735448-36120396)x3	ANKRD27, ATP4A +58 more	Copy number gain	See cases	GPathogenic

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Items: 66