140732[geneid] - ClinVar

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

Search results

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 146032	GRCh38/hg38 20q11.21(chr20:31254983-33473080)x3	LOC121627902, LOC121853002 +160 more	Copy number gain	See cases	GPathogenic
Select item 153447	GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3	ACSS2, ACTL10 +254 more	Copy number gain	See cases	GPathogenic
Select item 3323639	NM_080675.4(SUN5):c.1117A>C (p.Asn373His)	SUN5 (N373H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327318	NM_080675.4(SUN5):c.1106A>C (p.Gln369Pro)	SUN5 (Q369P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607263	NM_080675.4(SUN5):c.1075G>C (p.Val359Leu)	SUN5 (V359L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034980	NM_080675.4(SUN5):c.1068C>T (p.Arg356=)	SUN5	Single nucleotide variant (synonymous variant)	SUN5-related disorder	GLikely benign
Select item 268048	NM_080675.4(SUN5):c.1066C>T (p.Arg356Cys)	SUN5 (R356C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1298867	NM_080675.4(SUN5):c.984+8C>T	SUN5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 268052	NM_080675.4(SUN5):c.851C>G (p.Ser284Ter)	SUN5 (S284*)	Single nucleotide variant (nonsense)	Spermatogenic failure 16	GPathogenic
Select item 2281806	NM_080675.4(SUN5):c.844A>T (p.Thr282Ser)	SUN5 (T282S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 268047	NM_080675.4(SUN5):c.824C>T (p.Thr275Met)	SUN5 (T275M)	Single nucleotide variant (missense variant)	Spermatogenic failure 16	GPathogenic
Select item 3323640	NM_080675.4(SUN5):c.820C>T (p.Leu274Phe)	SUN5 (L274F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 268051	NM_080675.4(SUN5):c.781G>A (p.Val261Met)	SUN5 (V261M)	Single nucleotide variant (missense variant)	Spermatogenic failure 16	GPathogenic
Select item 2250729	NM_080675.4(SUN5):c.674A>G (p.Tyr225Cys)	SUN5 (Y225C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498884	NM_080675.4(SUN5):c.618C>T (p.Ala206=)	SUN5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2282965	NM_080675.4(SUN5):c.552A>C (p.Lys184Asn)	SUN5 (K184N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282197	NM_080675.4(SUN5):c.543G>T (p.Met181Ile)	SUN5 (M181I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 268049	NM_080675.4(SUN5):c.485T>A (p.Met162Lys)	SUN5 (M162K)	Single nucleotide variant (missense variant)	Spermatogenic failure 16	GPathogenic
Select item 3323641	NM_080675.4(SUN5):c.469G>C (p.Asp157His)	SUN5 (D157H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514115	NM_080675.4(SUN5):c.419G>A (p.Ser140Asn)	SUN5 (S140N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 268050	NM_080675.4(SUN5):c.381del (p.Val128fs)	SUN5 (V128fs)	Deletion (frameshift variant)	Spermatogenic failure 16 +1 more	GPathogenic/Likely pathogenic
Select item 3172129	NM_080675.4(SUN5):c.378G>C (p.Met126Ile)	SUN5 (M126I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383513	NM_080675.4(SUN5):c.377T>C (p.Met126Thr)	SUN5 (M126T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285126	NM_080675.4(SUN5):c.356C>G (p.Ser119Cys)	SUN5 (S119C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307215	NM_080675.4(SUN5):c.338T>C (p.Phe113Ser)	SUN5 (F113S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590015	NM_080675.4(SUN5):c.272C>T (p.Thr91Met)	SUN5 (T91M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334796	NM_080675.4(SUN5):c.251C>T (p.Ala84Val)	SUN5 (A84V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040125	NM_080675.4(SUN5):c.212-10T>C	SUN5	Single nucleotide variant (intron variant)	SUN5-related disorder	GLikely benign
Select item 3172128	NM_080675.4(SUN5):c.202G>A (p.Gly68Arg)	SUN5 (G68R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510712	NM_080675.4(SUN5):c.95G>A (p.Arg32Gln)	SUN5 (R32Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404668	NM_080675.4(SUN5):c.89G>A (p.Arg30Gln)	SUN5 (R30Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 151392	GRCh38/hg38 20q11.21(chr20:33002915-33065173)x3	BPIFB2, BPIFB3 +2 more	Copy number gain	See cases	GBenign
Select item 3248297	NC_000020.10:g.(?_31571600)_(33001705_?)del	ACTL10, AHCY +22 more	Deletion	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GPathogenic
Select item 3248262	NC_000020.10:g.(?_31368130)_(31592146_?)del	DNMT3B, EFCAB8 +2 more	Deletion	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GPathogenic
Select item 3248260	NC_000020.10:g.(?_31368130)_(34287210_?)del	ACSS2, ACTL10 +51 more	Deletion	Glutathione synthetase deficiency with 5-oxoprolinuria	GPathogenic
Select item 3062405	GRCh37/hg19 20q11.21(chr20:29917837-31886619)x3	BPIFB1, BPIFB2 +37 more	Copy number gain	not specified	GUncertain significance
Select item 1809278	GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3	AAR2, ACSS2 +98 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808687	GRCh37/hg19 20q11.21-11.23(chr20:29833535-34815537)x3	ACSS2, ACTL10 +86 more	Copy number gain	not provided	GLikely pathogenic
Select item 1526690	GRCh37/hg19 20p11.21-q11.22(chr20:25442597-33761550)	ACSS2, ACTL10 +71 more	Copy number gain	not specified	GPathogenic
Select item 1526688	GRCh37/hg19 20p11.21-q11.21(chr20:24162775-31820857)	ABHD12, ACSS1 +50 more	Copy number gain	not specified	GLikely pathogenic
Select item 1457888	NC_000020.10:g.(?_31189994)_(34287210_?)del	ACSS2, ACTL10 +53 more	Deletion	not provided	GPathogenic
Select item 1341087	GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3	ABHD12, ACSS1 +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 689044	GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3	AAR2, ACSS2 +88 more	Copy number gain	not provided	GPathogenic
Select item 560101	Single allele	HCK, HM13 +89 more	Duplication	not provided	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 253408	GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3	CCM2L, CD93 +89 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: 49