51244[geneid] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 1703229	Single allele	HDAC11, LOC126806611 +244 more	Deletion	3p- syndrome	GPathogenic
Select item 155700	GRCh38/hg38 3p25.1-24.3(chr3:14360747-21656134)x4	LOC132088880, LOC132088882 +214 more	Copy number gain	See cases	GPathogenic
Select item 2292527	NM_016474.5(CCDC174):c.19C>G (p.Pro7Ala)	CCDC174 (P7A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333679	NM_016474.5(CCDC174):c.35C>T (p.Ala12Val)	CCDC174 (A12V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492589	NM_016474.5(CCDC174):c.43T>G (p.Leu15Val)	CCDC174 (L15V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545063	NM_016474.5(CCDC174):c.71G>A (p.Arg24Gln)	CCDC174 (R24Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138872	NM_016474.5(CCDC174):c.74A>G (p.Lys25Arg)	CCDC174 (K25R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1029607	NM_016474.5(CCDC174):c.86T>C (p.Phe29Ser)	CCDC174 (F29S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 3138865	NM_016474.5(CCDC174):c.112T>G (p.Ser38Ala)	CCDC174 (S38A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253078	NM_016474.5(CCDC174):c.123T>A (p.Phe41Leu)	CCDC174 (F41L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 729670	NM_016474.5(CCDC174):c.132A>G (p.Pro44=)	CCDC174	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3138868	NM_016474.5(CCDC174):c.140C>G (p.Thr47Ser)	CCDC174 (T47S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371643	NM_016474.5(CCDC174):c.142A>G (p.Asn48Asp)	CCDC174 (N48D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1253075	NM_016474.5(CCDC174):c.148-203del	CCDC174	Deletion (intron variant)	not provided	GBenign
Select item 3138870	NM_016474.5(CCDC174):c.191G>A (p.Arg64Gln)	CCDC174 (R64Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455534	NM_016474.5(CCDC174):c.218T>A (p.Ile73Asn)	CCDC174 (I73N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 739939	NM_016474.5(CCDC174):c.237A>G (p.Leu79=)	CCDC174	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3035818	NM_016474.5(CCDC174):c.248+10T>C	CCDC174	Single nucleotide variant (intron variant)	CCDC174-related disorder	GLikely benign
Select item 1253287	NM_016474.5(CCDC174):c.248+182A>G	CCDC174	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 709747	NM_016474.5(CCDC174):c.307G>A (p.Asp103Asn)	CCDC174 (D103N)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3052027	NM_016474.5(CCDC174):c.307+3A>G	CCDC174	Single nucleotide variant (intron variant)	CCDC174-related disorder	GLikely benign
Select item 1241316	NM_016474.5(CCDC174):c.308-182dup	CCDC174	Duplication (intron variant)	not provided	GBenign
Select item 1192653	NM_016474.5(CCDC174):c.308-55C>A	CCDC174	Single nucleotide variant (intron variant)	Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome +1 more	GBenign
Select item 2614451	NM_016474.5(CCDC174):c.325A>G (p.Met109Val)	CCDC174 (M109V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 790261	NM_016474.5(CCDC174):c.365G>A (p.Arg122His)	CCDC174 (R122H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2265767	NM_016474.5(CCDC174):c.401C>G (p.Ser134Cys)	CCDC174 (S134C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2653584	NM_016474.5(CCDC174):c.423C>T (p.Asp141=)	CCDC174	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2525142	NM_016474.5(CCDC174):c.424G>A (p.Asp142Asn)	CCDC174 (D142N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1029605	NM_016474.5(CCDC174):c.472C>T (p.Pro158Ser)	CCDC174 (P158S)	Single nucleotide variant (missense variant +1 more)	Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome +1 more	GUncertain significance
Select item 2236253	NM_016474.5(CCDC174):c.476G>T (p.Ser159Ile)	CCDC174 (S159I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 734447	NM_016474.5(CCDC174):c.476G>A (p.Ser159Asn)	CCDC174 (S159N)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1294666	NM_016474.5(CCDC174):c.485+47G>A	CCDC174	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258478	NM_016474.5(CCDC174):c.485+83C>T	CCDC174	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192654	NM_016474.5(CCDC174):c.485+83C>G	CCDC174	Single nucleotide variant (intron variant)	Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome +1 more	GBenign
Select item 1224297	NM_016474.5(CCDC174):c.485+188ATAATTACA[2]	CCDC174	Microsatellite (intron variant)	not provided	GBenign
Select item 2245488	NM_016474.5(CCDC174):c.486G>C (p.Trp162Cys)	CCDC174 (W162C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598892	NM_016474.5(CCDC174):c.496G>A (p.Val166Met)	CCDC174 (V166M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 712981	NM_016474.5(CCDC174):c.520C>T (p.Arg174Cys)	CCDC174 (R174C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2394317	NM_016474.5(CCDC174):c.521G>A (p.Arg174His)	CCDC174 (R174H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1029606	NM_016474.5(CCDC174):c.521G>T (p.Arg174Leu)	CCDC174 (R174L)	Single nucleotide variant (missense variant +1 more)	Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome	GUncertain significance
Select item 736523	NM_016474.5(CCDC174):c.549G>T (p.Leu183=)	CCDC174	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1275138	NM_016474.5(CCDC174):c.581+116ATTG[7]	CCDC174	Microsatellite (intron variant)	not provided	GBenign
Select item 1286164	NM_016474.5(CCDC174):c.581+140A>G	CCDC174	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220570	NM_016474.5(CCDC174):c.581+140_581+141insTTGG	CCDC174	Insertion (intron variant)	not provided	GBenign
Select item 3138871	NM_016474.5(CCDC174):c.626T>C (p.Met209Thr)	CCDC174 (M209T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 738386	NM_016474.5(CCDC174):c.696C>T (p.Pro232=)	CCDC174	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 756505	NM_016474.5(CCDC174):c.697G>A (p.Val233Ile)	CCDC174 (V233I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2279116	NM_016474.5(CCDC174):c.712A>G (p.Ile238Val)	CCDC174 (I238V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592939	NM_016474.5(CCDC174):c.715C>T (p.Arg239Trp)	CCDC174 (R239W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1192655	NM_016474.5(CCDC174):c.725-13A>G	CCDC174	Single nucleotide variant (intron variant)	Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome +1 more	GBenign
Select item 708766	NM_016474.5(CCDC174):c.770A>C (p.Lys257Thr)	CCDC174 (K257T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1273516	NM_016474.5(CCDC174):c.819+33G>C	CCDC174	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 743624	NM_016474.5(CCDC174):c.820-6G>T	CCDC174	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2307836	NM_016474.5(CCDC174):c.842G>A (p.Arg281Gln)	CCDC174 (R281Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612208	NM_016474.5(CCDC174):c.911T>C (p.Met304Thr)	CCDC174 (M304T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2269597	NM_016474.5(CCDC174):c.980C>T (p.Pro327Leu)	CCDC174 (P327L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 734890	NM_016474.5(CCDC174):c.981G>A (p.Pro327=)	CCDC174	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3264088	NM_016474.5(CCDC174):c.985C>T (p.Pro329Ser)	CCDC174 (P329S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264089	NM_016474.5(CCDC174):c.1007G>A (p.Arg336His)	CCDC174 (R260H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264090	NM_016474.5(CCDC174):c.1031T>C (p.Val344Ala)	CCDC174 (V344A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 783368	NM_016474.5(CCDC174):c.1044C>A (p.Val348=)	CCDC174	Single nucleotide variant (synonymous variant +1 more)	Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome +1 more	GBenign/Likely benign
Select item 2688726	NM_016474.5(CCDC174):c.1089G>T (p.Glu363Asp)	CCDC174 (E287D +1 more)	Single nucleotide variant (missense variant +1 more)	Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome	GUncertain significance
Select item 2486198	NM_016474.5(CCDC174):c.1096C>T (p.Arg366Cys)	CCDC174 (R290C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226378	NM_016474.5(CCDC174):c.1097G>A (p.Arg366His)	CCDC174 (R366H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 715841	NM_016474.5(CCDC174):c.1098C>T (p.Arg366=)	CCDC174	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 445316	NM_016474.5(CCDC174):c.1106-10T>A	CCDC174	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 2288661	NM_016474.5(CCDC174):c.1134G>C (p.Arg378Ser)	CCDC174 (R302S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601968	NM_016474.5(CCDC174):c.1147C>T (p.Arg383Trp)	CCDC174 (R307W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1192656	NM_016474.5(CCDC174):c.1176G>A (p.Pro392=)	CCDC174	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1029604	NM_016474.5(CCDC174):c.1183G>C (p.Asp395His)	CCDC174 (D395H)	Single nucleotide variant (missense variant +1 more)	Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome	GUncertain significance
Select item 2245219	NM_016474.5(CCDC174):c.1235G>A (p.Ser412Asn)	CCDC174, LOC126806614 (S336N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3138866	NM_016474.5(CCDC174):c.1261C>T (p.Pro421Ser)	CCDC174, LOC126806614 (P421S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 709748	NM_016474.5(CCDC174):c.1290A>C (p.Gly430=)	CCDC174, LOC126806614	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 721610	NM_016474.5(CCDC174):c.1307C>T (p.Thr436Met)	CCDC174, LOC126806614 (T436M)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3138867	NM_016474.5(CCDC174):c.1313C>G (p.Pro438Arg)	CCDC174, LOC126806614 (P438R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404903	NM_016474.5(CCDC174):c.1327G>A (p.Asp443Asn)	CCDC174, LOC126806614 (D367N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 780103	NM_016474.5(CCDC174):c.1350A>C (p.Thr450=)	CCDC174, LOC126806614	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 749856	NM_016474.5(CCDC174):c.1350A>G (p.Thr450=)	CCDC174, LOC126806614	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 731345	NM_016474.5(CCDC174):c.1396G>A (p.Val466Met)	CCDC174, LOC126806614 (V466M)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 222080	NM_016474.5(CCDC174):c.1404A>G (p.Ter468Trp)	CCDC174, LOC126806614	Single nucleotide variant (stop lost +1 more)	Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome	GPathogenic
Select item 1274256	NM_016474.5(CCDC174):c.*167C>T	CCDC174, LOC126806614	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 1708466	GRCh37/hg19 3p25.1-24.2(chr3:13836340-25357427)x3	ANKRD28, BTD +41 more	Copy number gain	See cases	GPathogenic
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1526967	GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)	ANKRD28, ARL8B +112 more	Copy number gain	not specified	GPathogenic
Select item 562744	GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3	ANKRD28, ARL8B +84 more	Copy number gain	not provided	GPathogenic
Select item 562726	GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3	ANKRD28, ARL8B +98 more	Copy number gain	not provided	GPathogenic
Select item 443469	GRCh37/hg19 3p25.1-24.3(chr3:13720222-17808236)x1	ANKRD28, BTD +27 more	Copy number loss	See cases	GLikely pathogenic
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	ANKRD28, APRG1 +155 more	Copy number gain	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 441705	GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	TRIM71, TRNT1 +145 more	Copy number gain	See cases	GPathogenic

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Items: 100