HEXIM2[gene] - ClinVar

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

Search results

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 60171	GRCh38/hg38 17q21.31(chr17:44906235-45220406)x3	ACBD4, C1QL1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 59587	GRCh38/hg38 17q21.31(chr17:44928498-45299730)x1	ACBD4, C1QL1 +54 more	Copy number loss	See cases	GPathogenic
Select item 2228315	NM_001303441.2(HEXIM2):c.64A>G (p.Lys22Glu)	HEXIM2 (K44E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284162	NM_001303441.2(HEXIM2):c.79C>T (p.Pro27Ser)	HEXIM2, LOC105371795 (P49S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 994226	NM_001303441.2(HEXIM2):c.80C>G (p.Pro27Arg)	HEXIM2, LOC105371795 (P27R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2255574	NM_001303441.2(HEXIM2):c.169G>C (p.Asp57His)	HEXIM2, LOC105371795 (D79H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2293304	NM_001303441.2(HEXIM2):c.281G>T (p.Arg94Leu)	HEXIM2, LOC105371795 (R116L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3105584	NM_001303441.2(HEXIM2):c.478G>A (p.Val160Met)	HEXIM2, LOC105371795 (V182M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2363294	NM_001303441.2(HEXIM2):c.498C>G (p.His166Gln)	HEXIM2, LOC105371795 (H166Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3105585	NM_001303441.2(HEXIM2):c.526G>A (p.Gly176Arg)	HEXIM2, LOC105371795 (G176R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2508746	NM_001303441.2(HEXIM2):c.592G>C (p.Glu198Gln)	HEXIM2, LOC105371795 (E198Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3105586	NM_001303441.2(HEXIM2):c.632A>G (p.Gln211Arg)	HEXIM2, LOC105371795 (Q211R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3105587	NM_001303441.2(HEXIM2):c.653T>G (p.Leu218Arg)	HEXIM2, LOC105371795 (L218R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2568546	NM_001303441.2(HEXIM2):c.752A>G (p.Glu251Gly)	HEXIM2, LOC105371795 (E251G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2322045	NM_001303441.2(HEXIM2):c.757G>T (p.Ala253Ser)	HEXIM2, LOC105371795 (A275S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3105588	NM_001303441.2(HEXIM2):c.779G>A (p.Arg260Gln)	HEXIM2, LOC105371795 (R260Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3284164	NM_001303441.2(HEXIM2):c.782C>A (p.Thr261Asn)	HEXIM2, LOC105371795 (T283N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2482870	NM_001303441.2(HEXIM2):c.793C>T (p.Arg265Trp)	HEXIM2, LOC105371795 (R265W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3284163	NM_001303441.2(HEXIM2):c.836G>A (p.Arg279His)	HEXIM2, LOC105371795 (R279H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2592552	NM_001303441.2(HEXIM2):c.836G>T (p.Arg279Leu)	HEXIM2, LOC105371795 (R301L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3105589	NM_001303441.2(HEXIM2):c.842A>T (p.Asp281Val)	HEXIM2, LOC105371795 (D281V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3341110	GRCh37/hg19 17q21.31(chr17:42927777-43706954)x1	ACBD4, ARHGAP27 +16 more	Copy number loss	Hereditary syndromic Pierre Robin syndrome	GPathogenic
Select item 3242218	Single allele	KIF18B, LPO +196 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 442257	GRCh37/hg19 17q21.31(chr17:42649083-43659985)x3	ACBD4, ADAM11 +20 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 31