SUN5[gene] - ClinVar

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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 +1 more	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)	not provided +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

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Items: 49