ClinVar for Gene (Select 8464) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3323649	NM_003599.4(SUPT3H):c.412C>G (p.Gln138Glu)	SUPT3H (Q138E +4 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3246084	NC_000006.11:g.(?_45296464)_(45405808_?)del	RUNX2, SUPT3H	Deletion	not provided	GPathogenic
Select item 3172150	NM_003599.4(SUPT3H):c.507A>C (p.Arg169Ser)	SUPT3H (R169S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172149	NM_003599.4(SUPT3H):c.262C>T (p.Arg88Cys)	SUPT3H (R2C +4 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3172148	NM_003599.4(SUPT3H):c.101+43404A>G	SUPT3H (R45G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148899	GRCh37/hg19 6p21.1(chr6:44861182-46170500)x1	CLIC5, ENPP4 +3 more	Copy number loss	See cases	GUncertain significance
Select item 3062909	GRCh37/hg19 6p21.1(chr6:45343870-45508016)x3	RUNX2, SUPT3H	Copy number gain	not specified	GPathogenic
Select item 3062891	GRCh37/hg19 6p21.1(chr6:45284656-45370308)x3	RUNX2, SUPT3H	Copy number gain	not specified	GUncertain significance
Select item 3012176	NM_001024630.4(RUNX2):c.34C>T (p.Pro12Ser)	RUNX2, SUPT3H (P12S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2797574	NM_001024630.4(RUNX2):c.58+18T>A	RUNX2, SUPT3H	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2608450	NM_003599.4(SUPT3H):c.406A>T (p.Ile136Phe)	SUPT3H (I50F +4 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2598989	NM_001024630.4(RUNX2):c.43C>A (p.Gln15Lys)	RUNX2, SUPT3H (Q15K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2593934	NM_003599.4(SUPT3H):c.101+43375A>G	SUPT3H (N35S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2555925	NM_003599.4(SUPT3H):c.376G>A (p.Gly126Ser)	SUPT3H (G40S +4 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2490512	NM_003599.4(SUPT3H):c.850T>C (p.Cys284Arg)	SUPT3H (C198R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2423487	NC_000006.11:g.(?_45296464)_(45390714_?)del	RUNX2, SUPT3H	Deletion	not provided	GPathogenic
Select item 2411930	NM_003599.4(SUPT3H):c.101+42300A>G	SUPT3H (T6A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405100	NM_003599.4(SUPT3H):c.101+43323A>G	SUPT3H (T18A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401498	NM_003599.4(SUPT3H):c.448C>A (p.Leu150Ile)	SUPT3H (L148I +4 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2400464	NM_003599.4(SUPT3H):c.649G>A (p.Ala217Thr)	SUPT3H (A131T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387499	NM_003599.4(SUPT3H):c.484G>C (p.Val162Leu)	SUPT3H (V10L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380287	NM_003599.4(SUPT3H):c.343G>A (p.Asp115Asn)	SUPT3H (D113N +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2378560	NM_003599.4(SUPT3H):c.223G>A (p.Ala75Thr)	SUPT3H (A73T +3 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2368654	NM_003599.4(SUPT3H):c.772A>G (p.Thr258Ala)	SUPT3H (T258A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367511	NM_003599.4(SUPT3H):c.314A>T (p.Asp105Val)	SUPT3H (D105V +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2331164	NM_003599.4(SUPT3H):c.834C>G (p.Ser278Arg)	SUPT3H (S289R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328603	NM_003599.4(SUPT3H):c.148T>G (p.Leu50Val)	SUPT3H (L29V +2 more)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 2326224	NM_003599.4(SUPT3H):c.254T>C (p.Phe85Ser)	SUPT3H (F85S +3 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2310568	NM_003599.4(SUPT3H):c.335A>G (p.Lys112Arg)	SUPT3H (K123R +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2253951	NM_003599.4(SUPT3H):c.131T>G (p.Leu44Arg)	SUPT3H (L23R +2 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2238779	NM_003599.4(SUPT3H):c.919T>C (p.Tyr307His)	SUPT3H (Y305H +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2233880	NM_003599.4(SUPT3H):c.350A>G (p.Asp117Gly)	SUPT3H (D128G +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2230603	NM_003599.4(SUPT3H):c.263G>A (p.Arg88His)	SUPT3H (R86H +4 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1942097	NM_001024630.4(RUNX2):c.14G>C (p.Ser5Thr)	RUNX2, SUPT3H (S5T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1676306	GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3	PAQR8, PGK2 +92 more	Copy number gain	not provided	GLikely pathogenic
Select item 1577874	NM_001024630.4(RUNX2):c.58+9T>C	RUNX2, SUPT3H	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1527238	GRCh37/hg19 6p21.1(chr6:45325578-45590330)	RUNX2, SUPT3H	Copy number gain	not specified	GUncertain significance
Select item 1527236	GRCh37/hg19 6p21.1-12.3(chr6:43636308-50947320)	ADGRF5, ANKRD66 +50 more	Copy number loss	not specified	GPathogenic
Select item 1406741	NC_000006.11:g.(?_45296464)_(45480154_?)del	RUNX2, SUPT3H	Deletion	not provided	GPathogenic
Select item 1341311	GRCh37/hg19 6p21.1(chr6:45284656-46157024)x3	CLIC5, ENPP4 +3 more	Copy number gain	not provided	GLikely pathogenic
Select item 1319362	NM_003599.4(SUPT3H):c.-1+5881del	RUNX2, SUPT3H	Deletion (intron variant)	not provided	GUncertain significance
Select item 1277725	NM_001024630.4(RUNX2):c.58+97T>C	RUNX2, SUPT3H	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207597	NM_001024630.4(RUNX2):c.-66T>C	RUNX2, SUPT3H	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1196317	NM_001024630.4(RUNX2):c.-66-59A>G	LOC109611593, RUNX2 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1161520	NM_001024630.4(RUNX2):c.58+7G>A	RUNX2, SUPT3H	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1075909	NC_000006.11:g.(?_45290616)_(45631495_?)dup	RUNX2, SUPT3H	Duplication	not provided	GPathogenic
Select item 1075907	NC_000006.11:g.(?_45296464)_(46047979_?)del	CLIC5, RUNX2 +1 more	Deletion	not provided	GPathogenic
Select item 979551	GRCh37/hg19 6p21.1(chr6:44893008-45075893)x1	SUPT3H	Copy number loss	not provided	GLikely benign
Select item 916707	NM_001024630.4(RUNX2):c.29dup (p.Thr11fs)	RUNX2, SUPT3H (T11fs)	Duplication (frameshift variant +2 more)	Cleidocranial dysostosis	GPathogenic
Select item 911151	NM_001024630.4(RUNX2):c.54T>C (p.Phe18=)	RUNX2, SUPT3H	Single nucleotide variant (synonymous variant +2 more)	Cleidocranial dysostosis	GUncertain significance
Select item 722245	NM_003599.4(SUPT3H):c.101+43406G>T	SUPT3H	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 687994	GRCh37/hg19 6p21.1(chr6:44964410-45021808)x1	SUPT3H	Copy number loss	not provided	GUncertain significance
Select item 686938	GRCh37/hg19 6p21.1(chr6:45325590-45406397)x3	RUNX2, SUPT3H	Copy number gain	not provided	GPathogenic
Select item 634442	NM_001024630.4(RUNX2):c.3G>A (p.Met1Ile)	RUNX2, SUPT3H (M1I)	Single nucleotide variant (missense variant +3 more)	not provided	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 563177	GRCh37/hg19 6p21.1(chr6:45061951-45871043)x3	RUNX2, CLIC5 +1 more	Copy number gain	not provided	GUncertain significance
Select item 563176	GRCh37/hg19 6p21.1(chr6:44861183-45082967)x1	SUPT3H	Copy number loss	not provided	GUncertain significance
Select item 563175	GRCh37/hg19 6p21.1(chr6:44852511-44984555)x1	SUPT3H	Copy number loss	not provided	GLikely benign
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 395551	GRCh37/hg19 6p21.1(chr6:45319017-45383847)x3	RUNX2, SUPT3H	Copy number gain	See cases	Gconflicting data from submitters
Select item 357089	NM_001024630.4(RUNX2):c.-11_-9del	RUNX2, SUPT3H	Deletion (5 prime UTR variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 357088	NM_001024630.4(RUNX2):c.-40C>T	RUNX2, SUPT3H	Single nucleotide variant (5 prime UTR variant +2 more)	Cleidocranial dysostosis	GUncertain significance
Select item 357087	NM_001024630.4(RUNX2):c.-64T>C	RUNX2, SUPT3H	Single nucleotide variant (5 prime UTR variant +2 more)	Cleidocranial dysostosis	GBenign
Select item 357086	NM_001024630.4(RUNX2):c.-66-14G>T	LOC109611593, RUNX2 +1 more	Single nucleotide variant (intron variant)	Cleidocranial dysostosis	GBenign
Select item 357085	NM_001024630.4(RUNX2):c.-120T>C	LOC109611593, RUNX2 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	Cleidocranial dysostosis	GBenign
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 146275	GRCh38/hg38 6p21.1-12.3(chr6:44985760-47986838)x3	ADGRF1, ADGRF2 +78 more	Copy number gain	See cases	GLikely pathogenic
Select item 144769	GRCh38/hg38 6p21.1(chr6:45052665-45265747)x1	LOC129389525, LOC129389526 +2 more	Copy number loss	See cases	GUncertain significance
Select item 59500	GRCh38/hg38 6p21.1(chr6:44993452-46061865)x3	CLIC5, LOC109611589 +22 more	Copy number gain	See cases	GUncertain significance
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC132089395, LOC132089396 +324 more	Copy number loss	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 more	Copy number loss	See cases	GPathogenic
Select item 40202	NC_000006.12:g.45341183_45446148dup	LOC109611589, LOC129996578 +2 more	Duplication	Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 73