ClinVar for Gene (Select 221711) - ClinVar

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Links from Gene

Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3323852	NM_001040274.3(SYCP2L):c.2272C>T (p.Arg758Cys)	SYCP2L (R758C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323851	NM_001040274.3(SYCP2L):c.977G>A (p.Ser326Asn)	SYCP2L (S326N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3237151	NM_001040274.3(SYCP2L):c.999A>G (p.Ile333Met)	SYCP2L (I333M)	Single nucleotide variant (missense variant)	Premature ovarian failure 24	GPathogenic
Select item 3237150	NM_001040274.3(SYCP2L):c.154_155del (p.Ser52fs)	SYCP2L (S52fs)	Microsatellite (frameshift variant)	Premature ovarian failure 24	GPathogenic
Select item 3172592	NM_001040274.3(SYCP2L):c.859G>C (p.Gly287Arg)	SYCP2L (G287R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172591	NM_001040274.3(SYCP2L):c.773T>C (p.Val258Ala)	SYCP2L (V258A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172590	NM_001040274.3(SYCP2L):c.658A>G (p.Thr220Ala)	SYCP2L (T220A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172589	NM_001040274.3(SYCP2L):c.583G>A (p.Ala195Thr)	SYCP2L (A195T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172588	NM_001040274.3(SYCP2L):c.352G>A (p.Glu118Lys)	SYCP2L (E118K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172587	NM_001040274.3(SYCP2L):c.2374T>A (p.Ser792Thr)	SYCP2L (S792T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172586	NM_001040274.3(SYCP2L):c.1886T>C (p.Ile629Thr)	LOC101928191, SYCP2L (I629T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3172585	NM_001040274.3(SYCP2L):c.1880C>T (p.Pro627Leu)	LOC101928191, SYCP2L (P627L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172584	NM_001040274.3(SYCP2L):c.1838G>A (p.Ser613Asn)	LOC101928191, SYCP2L (S613N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172583	NM_001040274.3(SYCP2L):c.1466T>C (p.Val489Ala)	SYCP2L (V489A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172582	NM_001040274.3(SYCP2L):c.1389A>C (p.Leu463Phe)	SYCP2L (L463F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172581	NM_001040274.3(SYCP2L):c.1049C>T (p.Ala350Val)	SYCP2L (A350V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684439	GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3	ADTRP, BLOC1S5 +73 more	Copy number gain	not provided	GPathogenic
Select item 2681144	NM_001040274.3(SYCP2L):c.1528C>T (p.Gln510Ter)	SYCP2L (Q510*)	Single nucleotide variant (nonsense)	See cases	GLikely pathogenic
Select item 2656225	NM_001040274.3(SYCP2L):c.1380T>C (p.Thr460=)	SYCP2L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620398	NM_001040274.3(SYCP2L):c.629T>C (p.Met210Thr)	SYCP2L (M210T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606198	NM_001040274.3(SYCP2L):c.1909G>C (p.Glu637Gln)	LOC101928191, SYCP2L (E637Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546098	NM_001040274.3(SYCP2L):c.2155A>G (p.Lys719Glu)	SYCP2L (K719E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536190	NM_001040274.3(SYCP2L):c.1901C>T (p.Ser634Leu)	LOC101928191, SYCP2L (S634L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524962	NM_001040274.3(SYCP2L):c.95C>T (p.Thr32Met)	SYCP2L (T32M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2524266	NM_001040274.3(SYCP2L):c.1658G>A (p.Ser553Asn)	SYCP2L (S553N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521378	NM_001040274.3(SYCP2L):c.47G>A (p.Arg16Lys)	SYCP2L (R16K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513136	NM_001040274.3(SYCP2L):c.782A>C (p.Glu261Ala)	SYCP2L (E261A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509630	NM_001040274.3(SYCP2L):c.1366C>T (p.Arg456Cys)	SYCP2L (R456C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471798	NM_001040274.3(SYCP2L):c.1367G>A (p.Arg456His)	SYCP2L (R456H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471559	NM_001040274.3(SYCP2L):c.2137A>G (p.Thr713Ala)	SYCP2L (T713A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465610	NM_001040274.3(SYCP2L):c.1478C>T (p.Pro493Leu)	SYCP2L (P493L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455172	NM_001040274.3(SYCP2L):c.377C>T (p.Ser126Leu)	SYCP2L (S126L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2392141	NM_001040274.3(SYCP2L):c.1924A>G (p.Lys642Glu)	LOC101928191, SYCP2L (K642E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389072	NM_001040274.3(SYCP2L):c.1957A>G (p.Ile653Val)	SYCP2L (I653V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383109	NM_001040274.3(SYCP2L):c.721A>G (p.Thr241Ala)	SYCP2L (T241A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367118	NM_001040274.3(SYCP2L):c.1724A>G (p.Gln575Arg)	LOC101928191, SYCP2L (Q575R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355966	NM_001040274.3(SYCP2L):c.1934T>G (p.Leu645Arg)	LOC101928191, SYCP2L (L645R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355834	NM_001040274.3(SYCP2L):c.2104G>A (p.Gly702Ser)	SYCP2L (G702S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350531	NM_001040274.3(SYCP2L):c.1379C>G (p.Thr460Ser)	SYCP2L (T460S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342563	NM_001040274.3(SYCP2L):c.2102A>T (p.Asn701Ile)	SYCP2L (N701I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317071	NM_001040274.3(SYCP2L):c.1314G>C (p.Glu438Asp)	SYCP2L (E438D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2301867	NM_001040274.3(SYCP2L):c.1436G>A (p.Ser479Asn)	SYCP2L (S479N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291837	NM_001040274.3(SYCP2L):c.1093T>C (p.Phe365Leu)	SYCP2L (F365L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2287024	NM_001040274.3(SYCP2L):c.22G>T (p.Ala8Ser)	SYCP2L (A8S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283390	NM_001040274.3(SYCP2L):c.2238C>G (p.Asn746Lys)	SYCP2L (N746K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279147	NM_001040274.3(SYCP2L):c.287G>A (p.Gly96Asp)	SYCP2L (G96D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2276474	NM_001040274.3(SYCP2L):c.1006G>A (p.Ala336Thr)	SYCP2L (A336T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2276048	NM_001040274.3(SYCP2L):c.563C>T (p.Thr188Ile)	SYCP2L (T188I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270115	NM_001040274.3(SYCP2L):c.1723C>A (p.Gln575Lys)	LOC101928191, SYCP2L (Q575K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262525	NM_001040274.3(SYCP2L):c.707C>G (p.Ala236Gly)	SYCP2L (A236G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260159	NM_001040274.3(SYCP2L):c.1850C>T (p.Ser617Phe)	LOC101928191, SYCP2L (S617F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258802	NM_001040274.3(SYCP2L):c.2432C>T (p.Thr811Ile)	SYCP2L (T811I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255348	NM_001040274.3(SYCP2L):c.1435A>G (p.Ser479Gly)	SYCP2L (S479G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241893	NM_001040274.3(SYCP2L):c.829C>T (p.Arg277Cys)	SYCP2L (R277C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233123	NM_001040274.3(SYCP2L):c.1084A>T (p.Ile362Leu)	SYCP2L (I362L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226790	NM_001040274.3(SYCP2L):c.1805A>G (p.Gln602Arg)	LOC101928191, SYCP2L (Q602R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1810398	GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3	ADTRP, ATXN1 +89 more	Copy number gain	See cases	GPathogenic
Select item 1527221	GRCh37/hg19 6p24.2(chr6:10620217-10901049)	C6orf52, GCM2 +6 more	Copy number loss	not specified	GUncertain significance
Select item 1527220	GRCh37/hg19 6p24.3-22.3(chr6:8269414-17402660)	RBM24, RNF182 +35 more	Copy number gain	not specified	GLikely pathogenic
Select item 833506	NC_000006.12:g.(?_10393499)_(11010809_?)dup	GCNT2, MAK +8 more	Duplication	not provided	GUncertain significance
Select item 687409	GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3	ADTRP, ATXN1 +95 more	Copy number gain	not provided	GPathogenic
Select item 563154	GRCh37/hg19 6p25.1-24.2(chr6:6990611-11276452)x1	BLOC1S5, BMP6 +23 more	Copy number loss	not provided	GPathogenic
Select item 563140	GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3	ADTRP, ATXN1 +93 more	Copy number gain	not provided	GPathogenic
Select item 563139	GRCh37/hg19 6p25.3-23(chr6:156974-13502033)x3	ADTRP, BLOC1S5 +66 more	Copy number gain	not provided	GPathogenic
Select item 560067	Single allele	ADTRP, ATXN1 +95 more	Duplication	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 253526	GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3	STMND1, SYCP2L +95 more	Copy number gain	See cases	GPathogenic
Select item 253511	GRCh37/hg19 6p25.3-24.1(chr6:204009-11608587)x1	BLOC1S5, BMP6 +60 more	Copy number loss	See cases	GPathogenic
Select item 253430	GRCh37/hg19 6p25.1-22.3(chr6:5354402-17950079)x1	ADTRP, ATXN1 +51 more	Copy number loss	See cases	GPathogenic
Select item 221385	GRCh38/hg38 6p24.2(chr6:10887131-11044230)x1	ELOVL2, ELOVL2-AS1 +4 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	ADTRP, BLOC1S5 +612 more	Copy number loss	See cases	GPathogenic
Select item 155631	GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3	LOC129995778, LOC129995779 +559 more	Copy number gain	See cases	GLikely pathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC129995681, LOC129995682 +643 more	Copy number gain	See cases	GPathogenic
Select item 154368	GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1	ADTRP, ATXN1 +617 more	Copy number loss	See cases	GPathogenic
Select item 154343	GRCh38/hg38 6p24.2-23(chr6:10601499-13987316)x1	ADTRP, C6orf52 +154 more	Copy number loss	See cases	GPathogenic
Select item 154190	GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3	SLC35B3, SMIM13 +510 more	Copy number gain	See cases	GLikely pathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	ADTRP, ATXN1 +779 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 149264	GRCh38/hg38 6p24.3-24.2(chr6:10542021-11058096)x1	C6orf52, ELOVL2 +23 more	Copy number loss	See cases	GUncertain significance
Select item 146906	GRCh38/hg38 6p25.2-24.1(chr6:4068792-13267799)x1	LOC129995677, LOC129995678 +331 more	Copy number loss	See cases	GPathogenic
Select item 144540	GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3	LOC129995802, LOC129995803 +573 more	Copy number gain	See cases	GPathogenic
Select item 58150	GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3	ADTRP, BLOC1S5 +537 more	Copy number gain	See cases	GPathogenic
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +825 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 85