10388[geneid] - ClinVar

Search results

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065566, LOC130065567 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	LOC125387319, LOC125387320 +1024 more	Copy number gain	See cases	GPathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	ABHD16B, ADRM1 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 146317	GRCh38/hg38 20q13.2-13.33(chr20:55630597-60941207)x3	ANKRD60, APCDD1L +175 more	Copy number gain	See cases	GLikely pathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	ABHD16B, ADRM1 +491 more	Copy number gain	See cases	GPathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066376, LOC130066377 +464 more	Copy number gain	See cases	GPathogenic
Select item 146530	GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3	LOC132090595, LOC132090596 +355 more	Copy number gain	See cases	GPathogenic
Select item 2278894	NM_014258.4(SYCP2):c.4568C>T (p.Ser1523Phe)	SYCP2 (S1523F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379581	NM_014258.4(SYCP2):c.4564A>G (p.Met1522Val)	SYCP2 (M1522V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373965	NM_014258.4(SYCP2):c.4441A>G (p.Thr1481Ala)	SYCP2 (T1481A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498889	NM_014258.4(SYCP2):c.4368C>T (p.Ser1456=)	SYCP2	Single nucleotide variant (synonymous variant)	SYCP2-related condition +1 more	GLikely benign
Select item 2652458	NM_014258.4(SYCP2):c.4248C>T (p.Phe1416=)	SYCP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2376907	NM_014258.4(SYCP2):c.4206A>C (p.Gln1402His)	SYCP2 (Q1402H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 777601	NM_014258.4(SYCP2):c.4158G>A (p.Thr1386=)	SYCP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2361925	NM_014258.4(SYCP2):c.4048C>A (p.Gln1350Lys)	SYCP2 (Q1350K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 721877	NM_014258.4(SYCP2):c.4023C>T (p.Asp1341=)	SYCP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2598338	NM_014258.4(SYCP2):c.3970G>C (p.Asp1324His)	SYCP2 (D1324H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279461	NM_014258.4(SYCP2):c.3863T>G (p.Ile1288Arg)	SYCP2 (I1288R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514215	NM_014258.4(SYCP2):c.3854G>A (p.Arg1285His)	SYCP2 (R1285H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353485	NM_014258.4(SYCP2):c.3644A>G (p.Asn1215Ser)	SYCP2 (N1215S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385694	NM_014258.4(SYCP2):c.3596G>A (p.Arg1199Lys)	SYCP2 (R1199K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368841	NM_014258.4(SYCP2):c.3491A>G (p.Asn1164Ser)	SYCP2 (N1164S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299047	NM_014258.4(SYCP2):c.3460G>A (p.Gly1154Arg)	SYCP2 (G1154R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498890	NM_014258.4(SYCP2):c.3456C>T (p.Asn1152=)	SYCP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2348276	NM_014258.4(SYCP2):c.3407C>G (p.Ser1136Cys)	SYCP2 (S1136C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552766	NM_014258.4(SYCP2):c.3071A>T (p.Asn1024Ile)	SYCP2 (N1024I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 633614	NM_014258.4(SYCP2):c.3067_3071del (p.Lys1023fs)	SYCP2 (K1023fs)	Deletion (frameshift variant)	Spermatocyte maturation arrest +1 more	GPathogenic/Likely pathogenic
Select item 2246917	NM_014258.4(SYCP2):c.3055A>T (p.Thr1019Ser)	SYCP2 (T1019S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 781572	NM_014258.4(SYCP2):c.3023C>T (p.Pro1008Leu)	SYCP2 (P1008L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 789129	NM_014258.4(SYCP2):c.2885A>G (p.Gln962Arg)	SYCP2 (Q962R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2411163	NM_014258.4(SYCP2):c.2870C>T (p.Pro957Leu)	SYCP2 (P957L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 729423	NM_014258.4(SYCP2):c.2852T>C (p.Ile951Thr)	SYCP2 (I951T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2213545	NM_014258.4(SYCP2):c.2848G>A (p.Asp950Asn)	SYCP2 (D950N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530653	NM_014258.4(SYCP2):c.2806A>G (p.Ser936Gly)	SYCP2 (S936G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 633612	NM_014258.4(SYCP2):c.2793_2797del (p.Lys932fs)	SYCP2 (K932fs)	Deletion (frameshift variant)	Non-obstructive azoospermia +1 more	GPathogenic/Likely pathogenic
Select item 2273210	NM_014258.4(SYCP2):c.2786A>G (p.His929Arg)	SYCP2 (H929R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549966	NM_014258.4(SYCP2):c.2768A>G (p.Lys923Arg)	SYCP2 (K923R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479687	NM_014258.4(SYCP2):c.2461A>G (p.Thr821Ala)	SYCP2 (T821A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 773610	NM_014258.4(SYCP2):c.2452A>G (p.Ile818Val)	SYCP2 (I818V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2228880	NM_014258.4(SYCP2):c.2377A>G (p.Lys793Glu)	SYCP2 (K793E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 161672	NM_014258.4(SYCP2):c.2365-8T>C	SYCP2	Single nucleotide variant (intron variant)	Malignant tumor of prostate	GUncertain significance
Select item 2498891	NM_014258.4(SYCP2):c.2312A>C (p.Glu771Ala)	SYCP2 (E771A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2652459	NM_014258.4(SYCP2):c.2262C>T (p.Cys754=)	SYCP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2334738	NM_014258.4(SYCP2):c.2262C>G (p.Cys754Trp)	SYCP2 (C754W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274290	NM_014258.4(SYCP2):c.2216A>G (p.Tyr739Cys)	SYCP2 (Y739C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607483	NM_014258.4(SYCP2):c.2215T>C (p.Tyr739His)	SYCP2 (Y739H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 633613	NM_014258.4(SYCP2):c.2022_2025del (p.Lys674fs)	SYCP2 (K674fs)	Microsatellite (frameshift variant)	Non-obstructive azoospermia +1 more	GPathogenic/Likely pathogenic
Select item 769097	NM_014258.4(SYCP2):c.2016T>C (p.Tyr672=)	SYCP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2462549	NM_014258.4(SYCP2):c.1887C>G (p.Asn629Lys)	SYCP2 (N629K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370651	NM_014258.4(SYCP2):c.1834C>G (p.His612Asp)	SYCP2 (H612D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556198	NM_014258.4(SYCP2):c.1792A>T (p.Ile598Leu)	SYCP2 (I598L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508318	NM_014258.4(SYCP2):c.1781G>T (p.Arg594Ile)	SYCP2 (R594I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2535705	NM_014258.4(SYCP2):c.1570A>T (p.Ser524Cys)	SYCP2 (S524C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509297	NM_014258.4(SYCP2):c.1439C>T (p.Ala480Val)	SYCP2 (A480V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473620	NM_014258.4(SYCP2):c.1418G>A (p.Ser473Asn)	SYCP2 (S473N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280295	NM_014258.4(SYCP2):c.1373A>G (p.Asp458Gly)	SYCP2 (D458G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508493	NM_014258.4(SYCP2):c.1211T>C (p.Val404Ala)	SYCP2 (V404A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270283	NM_014258.4(SYCP2):c.1171A>G (p.Thr391Ala)	SYCP2 (T391A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330195	NM_014258.4(SYCP2):c.1147G>C (p.Val383Leu)	SYCP2 (V383L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253508	NM_014258.4(SYCP2):c.1123G>A (p.Asp375Asn)	SYCP2 (D375N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309666	NM_014258.4(SYCP2):c.1065T>G (p.Ile355Met)	SYCP2 (I355M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213544	NM_014258.4(SYCP2):c.1037G>A (p.Arg346Lys)	SYCP2 (R346K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495285	NM_014258.4(SYCP2):c.1009A>G (p.Lys337Glu)	SYCP2 (K337E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249765	NM_014258.4(SYCP2):c.985G>C (p.Glu329Gln)	SYCP2 (E329Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325567	NM_014258.4(SYCP2):c.955A>G (p.Ile319Val)	SYCP2 (I319V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331365	NM_014258.4(SYCP2):c.926A>G (p.Asn309Ser)	SYCP2 (N309S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485241	NM_014258.4(SYCP2):c.757A>G (p.Lys253Glu)	SYCP2 (K253E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2690968	NM_014258.4(SYCP2):c.600-1G>A	SYCP2	Single nucleotide variant (splice acceptor variant)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2327324	NM_014258.4(SYCP2):c.563G>A (p.Arg188Gln)	SYCP2 (R188Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480558	NM_014258.4(SYCP2):c.531T>G (p.Asn177Lys)	SYCP2 (N177K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065112	NM_014258.4(SYCP2):c.513+1G>T	SYCP2	Single nucleotide variant (splice donor variant)	Oligosynaptic infertility	GLikely pathogenic
Select item 2559848	NM_014258.4(SYCP2):c.461G>A (p.Arg154His)	SYCP2 (R154H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524037	NM_014258.4(SYCP2):c.305C>A (p.Ala102Asp)	SYCP2 (A102D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 781573	NM_014258.4(SYCP2):c.305C>T (p.Ala102Val)	SYCP2 (A102V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3037072	NM_014258.4(SYCP2):c.298-3dup	SYCP2	Duplication (intron variant)	SYCP2-related condition	GLikely benign
Select item 2551214	NM_014258.4(SYCP2):c.249G>C (p.Leu83Phe)	SYCP2 (L83F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507667	NM_014258.4(SYCP2):c.212T>C (p.Val71Ala)	SYCP2 (V71A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307075	NM_014258.4(SYCP2):c.162A>G (p.Ile54Met)	SYCP2 (I54M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 777602	NM_014258.4(SYCP2):c.95T>C (p.Ile32Thr)	SYCP2 (I32T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2273949	NM_014258.4(SYCP2):c.13C>A (p.Pro5Thr)	SYCP2 (P5T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580344	GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	ABHD16B, ADRM1 +113 more	Copy number gain	See cases	GUncertain significance
Select item 1526694	GRCh37/hg19 20q13.32-13.33(chr20:56835739-62915555)	LAMA5, LIME1 +88 more	Copy number gain	not specified	GPathogenic
Select item 1180535	GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3	GATA5, ZBTB46 +116 more	Copy number gain	not provided	GPathogenic
Select item 816132	GRCh37/hg19 20q13.32-13.33(chr20:56788101-62762405)x3	BHLHE23, ZGPAT +87 more	Copy number gain	not provided	GPathogenic
Select item 816131	GRCh37/hg19 20q13.31-13.33(chr20:55743522-62032989)x3	CDH4, CHRNA4 +68 more	Copy number gain	not provided	GPathogenic
Select item 625661	GRCh37/hg19 20q13.2-13.33(chr20:54143747-62194881)	ADRM1, ANKRD60 +86 more	Copy number gain	not provided	GPathogenic
Select item 564642	GRCh37/hg19 20q13.32-13.33(chr20:58342058-59978526)x3	LINC02910, CDH4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	KIF3B, KIZ +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 441724	GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3	ABHD16B, ADRM1 +116 more	Copy number gain	See cases	GLikely pathogenic
Select item 221548	GRCh37/hg19 20q13.33(chr20:58444946-58533817)x3	CDH26, FAM217B +2 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 91