ClinVar for Gene (Select 346157) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3195488	NM_001076781.3(ZNF391):c.985G>A (p.Gly329Arg)	ZNF391 (G329R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195486	NM_001076781.3(ZNF391):c.811C>A (p.His271Asn)	ZNF391 (H271N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195485	NM_001076781.3(ZNF391):c.697C>T (p.Arg233Cys)	ZNF391 (R233C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195484	NM_001076781.3(ZNF391):c.578A>G (p.Tyr193Cys)	ZNF391 (Y193C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195483	NM_001076781.3(ZNF391):c.394G>A (p.Gly132Ser)	ZNF391 (G132S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3195482	NM_001076781.3(ZNF391):c.305T>C (p.Leu102Pro)	ZNF391 (L102P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195481	NM_001076781.3(ZNF391):c.304C>A (p.Leu102Ile)	ZNF391 (L102I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529413	NM_001076781.3(ZNF391):c.686C>G (p.Ala229Gly)	ZNF391 (A229G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479790	NM_001076781.3(ZNF391):c.176G>A (p.Gly59Asp)	ZNF391 (G59D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472082	NM_001076781.3(ZNF391):c.473C>A (p.Thr158Asn)	ZNF391 (T158N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347342	NM_001076781.3(ZNF391):c.217G>A (p.Ala73Thr)	ZNF391 (A73T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2333257	NM_001076781.3(ZNF391):c.768A>C (p.Lys256Asn)	ZNF391 (K256N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330657	NM_001076781.3(ZNF391):c.182A>G (p.Glu61Gly)	ZNF391 (E61G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325718	NM_001076781.3(ZNF391):c.95C>T (p.Ala32Val)	ZNF391 (A32V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308663	NM_001076781.3(ZNF391):c.749A>C (p.Glu250Ala)	ZNF391 (E250A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306442	NM_001076781.3(ZNF391):c.962T>C (p.Ile321Thr)	ZNF391 (I321T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293633	NM_001076781.3(ZNF391):c.778T>C (p.Trp260Arg)	ZNF391 (W260R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273041	NM_001076781.3(ZNF391):c.216C>G (p.Asp72Glu)	ZNF391 (D72E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 686587	GRCh37/hg19 6p22.1(chr6:27209501-27432468)x1	POM121L2, PRSS16 +2 more	Copy number loss	not provided	GUncertain significance
Select item 563170	GRCh37/hg19 6p22.1(chr6:27166564-27432468)x3	ZNF184, ZNF391 +2 more	Copy number gain	not provided	GUncertain significance
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 394855	GRCh37/hg19 6p22.1(chr6:27327688-27369166)x3	ZNF391	Copy number gain	See cases	GLikely benign
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ANKRD66, C6orf201 +2580 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 144210	GRCh38/hg38 6p22.2-22.1(chr6:26280579-28727313)x3	ABT1, BTN1A1 +344 more	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 26