CD44[gene] - ClinVar

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Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	PAX6_HS3, PAX6_HS8 +334 more	Copy number loss	See cases	GPathogenic
Select item 145969	GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1	LOC129390275, LOC129390276 +255 more	Copy number loss	See cases	GPathogenic
Select item 59751	GRCh38/hg38 11p13-12(chr11:34161694-36799127)x3	ABTB2, APIP +100 more	Copy number gain	See cases	GPathogenic
Select item 154920	GRCh38/hg38 11p13-12(chr11:34168931-36820798)x3	LOC130005558, LOC130005559 +100 more	Copy number gain	See cases	GUncertain significance
Select item 59413	GRCh38/hg38 11p13-12(chr11:35103218-38791492)x1	CD44, CD44-AS1 +66 more	Copy number loss	See cases	GUncertain significance
Select item 57374	GRCh38/hg38 11p13-12(chr11:35135480-37649168)x1	CD44, CD44-AS1 +56 more	Copy number loss	See cases	GUncertain significance
Select item 2615985	NM_000610.4(CD44):c.58G>A (p.Ala20Thr)	CD44 (A20T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 126867	NM_000610.4(CD44):c.67+11205G>A	CD44	Single nucleotide variant (intron variant)	Nephrolithiasis, calcium oxalate	Gassociation
Select item 126868	NM_000610.4(CD44):c.67+14128T>C	CD44	Single nucleotide variant (intron variant)	Nephrolithiasis, calcium oxalate	Gassociation
Select item 126869	NM_000610.4(CD44):c.68-18471G>A	CD44	Single nucleotide variant (intron variant)	Nephrolithiasis, calcium oxalate	Gassociation
Select item 126870	NM_000610.4(CD44):c.68-13570A>T	CD44, SNORD164	Single nucleotide variant (non-coding transcript variant +1 more)	Nephrolithiasis, calcium oxalate	Gassociation
Select item 126871	NM_000610.4(CD44):c.68-9931G>A	CD44	Single nucleotide variant (intron variant)	Nephrolithiasis, calcium oxalate	Gassociation
Select item 126872	NM_000610.4(CD44):c.68-6677C>G	CD44	Single nucleotide variant (intron variant)	Nephrolithiasis, calcium oxalate	Gassociation
Select item 126873	NM_000610.4(CD44):c.68-5908G>A	CD44	Single nucleotide variant (intron variant)	Nephrolithiasis, calcium oxalate	Gassociation
Select item 126874	NM_000610.4(CD44):c.68-5843A>G	CD44	Single nucleotide variant (intron variant)	Nephrolithiasis, calcium oxalate	Gassociation
Select item 126875	NM_000610.4(CD44):c.68-5493C>T	CD44	Single nucleotide variant (intron variant)	Nephrolithiasis, calcium oxalate	Gassociation
Select item 2478814	NM_000610.4(CD44):c.110A>C (p.Glu37Ala)	CD44 (E37A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526453	NM_000610.4(CD44):c.136C>T (p.Arg46Trp)	CD44 (R46W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 599021	NM_000610.4(CD44):c.137G>A (p.Arg46Gln)	CD44 (R46Q)	Single nucleotide variant (missense variant)	INDIAN BLOOD GROUP SYSTEM POLYMORPHISM	GBenign
Select item 756343	NM_000610.4(CD44):c.147C>T (p.Ala49=)	CD44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 126876	NM_000610.4(CD44):c.234-905G>A	CD44	Single nucleotide variant (intron variant)	Nephrolithiasis, calcium oxalate	Gassociation
Select item 3059200	NM_000610.4(CD44):c.255C>T (p.His85=)	CD44	Single nucleotide variant (synonymous variant +1 more)	CD44-related condition	GBenign
Select item 748251	NM_000610.4(CD44):c.345C>T (p.Asp115=)	CD44	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 709993	NM_000610.4(CD44):c.367+7T>C	CD44	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 756739	NM_000610.4(CD44):c.438T>G (p.Thr146=)	CD44	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2216609	NM_000610.4(CD44):c.488C>T (p.Thr163Met)	CD44 (T163M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 745899	NM_000610.4(CD44):c.489G>A (p.Thr163=)	CD44	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2255321	NM_000610.4(CD44):c.574G>C (p.Gly192Arg)	CD44 (G192R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 731701	NM_000610.4(CD44):c.639C>T (p.Thr213=)	CD44	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3043576	NM_000610.4(CD44):c.648A>C (p.Thr216=)	CD44	Single nucleotide variant (synonymous variant +1 more)	CD44-related condition	GLikely benign
Select item 3051675	NM_000610.4(CD44):c.729T>C (p.Asp243=)	CD44	Single nucleotide variant (synonymous variant +1 more)	CD44-related condition	GLikely benign
Select item 786918	NM_000610.4(CD44):c.735T>C (p.Phe245=)	CD44	Single nucleotide variant (synonymous variant +1 more)	CD44-related condition +1 more	GBenign
Select item 2332985	NM_000610.4(CD44):c.858A>T (p.Arg286Ser)	CD44 (R243S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 126877	NM_000610.4(CD44):c.923-767T>A	CD44	Single nucleotide variant (intron variant)	Nephrolithiasis, calcium oxalate	Gassociation
Select item 754441	NM_000610.4(CD44):c.923-10G>A	CD44	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2456975	NM_000610.4(CD44):c.937C>T (p.Arg313Trp)	CD44 (R313W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2218500	NM_000610.4(CD44):c.940G>A (p.Ala314Thr)	CD44 (A271T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2532090	NM_000610.4(CD44):c.970T>G (p.Trp324Gly)	CD44 (W281G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3056005	NM_000610.4(CD44):c.1122G>A (p.Glu374=)	CD44	Single nucleotide variant (synonymous variant +1 more)	CD44-related condition	GBenign
Select item 2514365	NM_000610.4(CD44):c.1162A>G (p.Thr388Ala)	CD44 (T345A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2303161	NM_000610.4(CD44):c.1166C>G (p.Pro389Arg)	CD44 (P389R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 778041	NM_000610.4(CD44):c.1178C>T (p.Thr393Met)	CD44 (T393M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2550599	NM_000610.4(CD44):c.1220G>A (p.Arg407Lys)	CD44 (R364K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2373440	NM_000610.4(CD44):c.1225C>T (p.His409Tyr)	CD44 (H409Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2597702	NM_000610.4(CD44):c.1238G>A (p.Arg413His)	CD44 (R370H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 709995	NM_000610.4(CD44):c.1245A>C (p.Thr415=)	CD44	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3059515	NM_000610.4(CD44):c.1250A>G (p.Lys417Arg)	CD44 (K374R +1 more)	Single nucleotide variant (missense variant +1 more)	CD44-related condition	GBenign
Select item 3053593	NM_000610.4(CD44):c.1282+10G>A	CD44	Single nucleotide variant (intron variant)	CD44-related condition	GLikely benign
Select item 2379975	NM_000610.4(CD44):c.1289C>T (p.Ser430Leu)	CD44 (S387L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 708949	NM_000610.4(CD44):c.1369A>G (p.Ile457Val)	CD44 (I414V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 725253	NM_000610.4(CD44):c.1386A>G (p.Gly462=)	CD44	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 776602	NM_000610.4(CD44):c.1388G>A (p.Arg463Gln)	CD44 (R463Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 740687	NM_000610.4(CD44):c.1414+7G>T	CD44	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3058927	NM_000610.4(CD44):c.1436T>C (p.Ile479Thr)	CD44 (I230T +2 more)	Single nucleotide variant (missense variant +1 more)	CD44-related condition	GBenign
Select item 2475479	NM_000610.4(CD44):c.1547C>T (p.Ser516Leu)	CD44, CD44-AS1 (S267L +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2527833	NM_000610.4(CD44):c.1574A>T (p.Asp525Val)	CD44, CD44-AS1 (D525V +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 739568	NM_000610.4(CD44):c.1622C>T (p.Thr541Ile)	CD44, CD44-AS1 (T292I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 782773	NM_000610.4(CD44):c.1683C>T (p.Thr561=)	CD44, CD44-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2355954	NM_000610.4(CD44):c.1708A>C (p.Ser570Arg)	CD44, CD44-AS1 (S570R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2470150	NM_000610.4(CD44):c.1784A>T (p.Asn595Ile)	CD44, CD44-AS1 (N282I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2412056	NM_000610.4(CD44):c.1859G>A (p.Gly620Glu)	CD44, CD44-AS1 +1 more (G620E +4 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 717300	NM_000610.4(CD44):c.2018G>A (p.Arg673Gln)	CD44 (R271Q +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 626078	NM_000610.4(CD44):c.2024+633G>A	CD44	Single nucleotide variant (intron variant)	Blood group, Indian system	GUncertain significance
Select item 126878	NM_000610.4(CD44):c.2024+779A>G	CD44	Single nucleotide variant (3 prime UTR variant +1 more)	Nephrolithiasis, calcium oxalate	Gassociation
Select item 2479017	NM_000610.4(CD44):c.2053A>C (p.Asn685His)	CD44 (N283H +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525827	NM_000610.4(CD44):c.2115G>A (p.Lys705=)	CD44 (V118I)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 750297	NM_000610.4(CD44):c.2187G>A (p.Glu729=)	CD44	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2211734	NM_000610.4(CD44):c.2215A>C (p.Lys739Gln)	CD44 (K696Q +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3039465	NM_000610.4(CD44):c.*1C>G	CD44	Single nucleotide variant (3 prime UTR variant)	CD44-related condition	GLikely benign
Select item 1807696	GRCh37/hg19 11p13-12(chr11:31372721-38259316)x1	ABTB2, APIP +40 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527636	GRCh37/hg19 11p13-12(chr11:34189942-36857171)	ABTB2, APIP +16 more	Copy number gain	not specified	GUncertain significance
Select item 1527635	GRCh37/hg19 11p13-12(chr11:32782607-36404823)	ABTB2, APIP +26 more	Copy number gain	not specified	GUncertain significance
Select item 997825	Single allele	APOA1, APOA4 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 688898	GRCh37/hg19 11p14.3-13(chr11:22079154-35597645)x1	ABTB2, ANO3 +55 more	Copy number loss	not provided	GPathogenic
Select item 685267	GRCh37/hg19 11p13-12(chr11:34183318-36860753)x3	ABTB2, APIP +16 more	Copy number gain	not provided	GUncertain significance
Select item 443176	GRCh37/hg19 11p13-12(chr11:35126357-38814431)x1	LDLRAD3, CD44 +10 more	Copy number loss	See cases	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441893	GRCh37/hg19 11p14.3-13(chr11:25771208-35614978)x1	ABTB2, ANO3 +48 more	Copy number loss	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ABCC8, ABTB2 +364 more	Copy number gain	See cases	GPathogenic
Select item 441612	GRCh37/hg19 11p14.1-12(chr11:27588560-41770792)x1	APIP, BDNF +50 more	Copy number loss	See cases	GPathogenic
Select item 395339	GRCh37/hg19 11p13(chr11:31210842-35436121)x1	ABTB2, APIP +30 more	Copy number loss	See cases	GPathogenic
Select item 253513	GRCh37/hg19 11p14.1-12(chr11:30615127-40606139)x1	ABTB2, APIP +41 more	Copy number loss	See cases	GPathogenic

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Items: 84