ClinVar for Gene (Select 51170) - ClinVar

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Links from Gene

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3107097	NM_016245.5(HSD17B11):c.787A>G (p.Ile263Val)	HSD17B11 (I263V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107095	NM_016245.5(HSD17B11):c.160T>A (p.Tyr54Asn)	HSD17B11 (Y54N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107094	NM_016245.5(HSD17B11):c.155C>T (p.Thr52Ile)	HSD17B11 (T52I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062764	GRCh37/hg19 4q21.21-22.3(chr4:81558759-95965995)x1	ABCG2, ABRAXAS1 +59 more	Copy number loss	not specified	GPathogenic
Select item 3062760	GRCh37/hg19 4q21.23-22.3(chr4:85139670-96295033)x3	ABCG2, AFF1 +40 more	Copy number gain	not specified	GLikely pathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SPATA18, SPATA4 +537 more	Copy number gain	not provided	GPathogenic
Select item 2654892	NM_016245.5(HSD17B11):c.534G>C (p.Ser178=)	HSD17B11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654891	NM_016245.5(HSD17B11):c.639A>C (p.Thr213=)	HSD17B11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2579270	GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1	ABCG2, ABRAXAS1 +338 more	Copy number loss	Chromosome 4q21 deletion syndrome	GPathogenic
Select item 2382337	NM_016245.5(HSD17B11):c.896C>T (p.Ala299Val)	HSD17B11 (A299V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347557	NM_016245.5(HSD17B11):c.241A>G (p.Lys81Glu)	HSD17B11 (K81E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326207	NM_016245.5(HSD17B11):c.715C>A (p.Pro239Thr)	HSD17B11 (P239T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236486	NM_016245.5(HSD17B11):c.182G>T (p.Ser61Ile)	HSD17B11 (S61I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207153	NM_016245.5(HSD17B11):c.434T>G (p.Val145Gly)	HSD17B11 (V145G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206468	NM_016245.5(HSD17B11):c.827G>A (p.Arg276His)	HSD17B11 (R276H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527108	GRCh37/hg19 4q21.23-22.1(chr4:85839771-93071150)	ABCG2, AFF1 +31 more	Copy number loss	not specified	GPathogenic
Select item 1527103	GRCh37/hg19 4q21.21-22.1(chr4:81054789-90667421)	ABCG2, ABRAXAS1 +53 more	Copy number loss	not specified	GPathogenic
Select item 1527100	GRCh37/hg19 4q21.21-22.2(chr4:79780152-94873225)	ABCG2, ABRAXAS1 +63 more	Copy number loss	not specified	GPathogenic
Select item 1527097	GRCh37/hg19 4q13.3-22.1(chr4:75737340-91131156)	ABCG2, ABRAXAS1 +91 more	Copy number gain	not specified	GPathogenic
Select item 1341211	GRCh37/hg19 4q21.21-22.1(chr4:80467886-93362064)x1	ABCG2, ABRAXAS1 +58 more	Copy number loss	not provided	GPathogenic
Select item 1340508	GRCh37/hg19 4q22.1(chr4:88063686-88517522)x3	HSD17B11, HSD17B13 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 976807	Single allele	DMP1, ABCG2 +22 more	Deletion	Autosomal dominant polycystic kidney disease	GPathogenic
Select item 638111	GRCh37/hg19 4q21.21-22.1(chr4:80482400-92572499)x1	GPRIN3, HELQ +57 more	Copy number loss	See cases	GPathogenic
Select item 625784	GRCh37/hg19 4q21.21-22.1(chr4:82043901-88334228)	ABRAXAS1, AFF1 +28 more	Copy number loss	not provided	GPathogenic
Select item 562942	GRCh37/hg19 4q21.3-22.1(chr4:87984263-89193590)x3	AFF1, PPM1K +12 more	Copy number gain	not provided	GUncertain significance
Select item 562937	GRCh37/hg19 4q21.21-22.3(chr4:81314915-96636651)x1	ABCG2, ABRAXAS1 +60 more	Copy number loss	not provided	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 394976	GRCh37/hg19 4q21.21-22.1(chr4:82283358-90341831)x1	ABCG2, ABRAXAS1 +47 more	Copy number loss	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +744 more	Copy number gain	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 152923	GRCh38/hg38 4q21.23-22.2(chr4:85449365-93973194)x1	ABCG2, AFF1 +126 more	Copy number loss	See cases	GPathogenic
Select item 148194	GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1	ABCG2, ABRAXAS1 +335 more	Copy number loss	See cases	GPathogenic
Select item 147434	GRCh38/hg38 4q21.23-22.1(chr4:84329551-87679204)x1	AFF1, AFF1-AS1 +62 more	Copy number loss	See cases	GPathogenic
Select item 145649	GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1	ABCG2, ABRAXAS1 +244 more	Copy number loss	See cases	GPathogenic
Select item 144779	GRCh38/hg38 4q21.3-22.1(chr4:87067415-88158276)x3	ABCG2, AFF1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 59455	GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1	ABCG2, ABRAXAS1 +251 more	Copy number loss	See cases	GPathogenic
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 39