ClinVar for Gene (Select 7520) - ClinVar

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Links from Gene

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3191301	NM_021141.4(XRCC5):c.895G>C (p.Asp299His)	XRCC5 (D299H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 2651870	NM_021141.4(XRCC5):c.1341C>T (p.Thr447=)	XRCC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623260	NM_021141.4(XRCC5):c.1400A>G (p.Asp467Gly)	XRCC5 (D467G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620200	NM_021141.4(XRCC5):c.672T>G (p.Ile224Met)	XRCC5 (I224M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611679	NM_021141.4(XRCC5):c.2132C>A (p.Pro711Gln)	XRCC5 (P711Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600562	NM_021141.4(XRCC5):c.1519C>G (p.Pro507Ala)	XRCC5 (P507A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594864	NM_021141.4(XRCC5):c.1958A>G (p.Gln653Arg)	XRCC5 (Q653R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588566	NM_021141.4(XRCC5):c.1796G>A (p.Arg599His)	XRCC5 (R599H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2550427	NM_021141.4(XRCC5):c.703T>C (p.Cys235Arg)	XRCC5 (C235R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528138	NM_021141.4(XRCC5):c.1961G>A (p.Arg654His)	XRCC5 (R654H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515694	NM_021141.4(XRCC5):c.1219G>A (p.Val407Met)	XRCC5 (V407M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491368	NM_021141.4(XRCC5):c.321C>A (p.Phe107Leu)	XRCC5 (F107L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479008	NM_021141.4(XRCC5):c.1769G>A (p.Gly590Glu)	XRCC5 (G590E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457803	NM_021141.4(XRCC5):c.1861G>A (p.Glu621Lys)	XRCC5 (E621K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455878	NM_021141.4(XRCC5):c.1928G>A (p.Arg643Gln)	XRCC5 (R643Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377815	NM_021141.4(XRCC5):c.1124T>G (p.Val375Gly)	XRCC5 (V375G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330749	NM_021141.4(XRCC5):c.1732G>C (p.Val578Leu)	XRCC5 (V578L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308780	NM_021141.4(XRCC5):c.1427T>G (p.Leu476Trp)	XRCC5 (L476W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308430	NM_021141.4(XRCC5):c.1355A>G (p.Asn452Ser)	XRCC5 (N452S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2306406	NM_021141.4(XRCC5):c.417C>G (p.Ser139Arg)	XRCC5 (S139R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293630	NM_021141.4(XRCC5):c.233C>T (p.Thr78Ile)	XRCC5 (T78I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280777	NM_021141.4(XRCC5):c.550C>G (p.Arg184Gly)	XRCC5 (R184G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265100	NM_021141.4(XRCC5):c.1889C>T (p.Pro630Leu)	XRCC5 (P630L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2261746	NM_021141.4(XRCC5):c.1415C>G (p.Thr472Ser)	XRCC5 (T472S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255479	NM_021141.4(XRCC5):c.503C>T (p.Ser168Leu)	XRCC5 (S168L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211385	NM_021141.4(XRCC5):c.1550A>G (p.Asn517Ser)	XRCC5 (N517S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526950	GRCh37/hg19 2q34-36.1(chr2:215108009-221679980)	AAMP, ABCA12 +72 more	Copy number gain	not specified	GPathogenic
Select item 1340964	GRCh37/hg19 2q35(chr2:216802244-217200292)x3	MARCHF4, MREG +3 more	Copy number gain	not provided	GUncertain significance
Select item 1285048	NM_021141.4(XRCC5):c.1020C>T (p.Phe340=)	XRCC5	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 980004	GRCh37/hg19 2q34-35(chr2:215122019-220397907)x1	AAMP, ABCA12 +66 more	Copy number loss	not provided	GLikely pathogenic
Select item 816573	GRCh37/hg19 2q35(chr2:216883237-220953003)x3	CXCR2, FEV +65 more	Copy number gain	not provided	GPathogenic
Select item 786812	NM_021141.4(XRCC5):c.2166T>C (p.Gly722=)	XRCC5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778280	NM_021141.4(XRCC5):c.1648G>T (p.Ala550Ser)	XRCC5 (A550S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 775186	NM_021141.4(XRCC5):c.1473T>C (p.Phe491=)	XRCC5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 687628	GRCh37/hg19 2q35(chr2:216937755-217001750)x3	PECR, TMEM169 +1 more	Copy number gain	not provided	GUncertain significance
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 562677	GRCh37/hg19 2q33.3-35(chr2:205169148-219149293)x3	AAMP, ABCA12 +60 more	Copy number gain	not provided	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 more	Copy number gain	See cases	GPathogenic
Select item 221795	GRCh37/hg19 2q35(chr2:216629374-217251859)x3	XRCC5, PECR +3 more	Copy number gain	Premature ovarian failure	GUncertain significance
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 150323	GRCh38/hg38 2q35(chr2:215908412-216680325)x3	IGFBP2, IGFBP5 +40 more	Copy number gain	See cases	GLikely benign
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	LOC129935841, LOC129935842 +1148 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935480, LOC129935481 +1299 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 53