Related gene-specific medical variations for Gene (Select 8464) - ClinVar

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Links from Gene

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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_003599.4(SUPT3H):c.101+36399A>T	RUNX2, SUPT3H	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 1577874	NM_003599.4(SUPT3H):c.101+36408A>G	RUNX2, SUPT3H	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1319362	NM_001024630.4(RUNX2):c.58+43103del	RUNX2, SUPT3H	Deletion (intron variant)	not provided	GUncertain significance
Select item 1277725	NM_003599.4(SUPT3H):c.101+36320A>G	RUNX2, SUPT3H	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207597	NM_003599.4(SUPT3H):c.101+36540A>G	RUNX2, SUPT3H	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1196317	NM_003599.4(SUPT3H):c.101+36599T>C	LOC109611593, RUNX2 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1161520	NM_003599.4(SUPT3H):c.101+36410C>T	RUNX2, SUPT3H	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 687994	GRCh37/hg19 6p21.1(chr6:44964410-45021808)x1	SUPT3H	Copy number loss	not provided	GUncertain significance
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 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 357089	NM_003599.4(SUPT3H):c.101+36483_101+36485del	RUNX2, SUPT3H	Deletion (5 prime UTR variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 357088	NM_003599.4(SUPT3H):c.101+36514G>A	RUNX2, SUPT3H	Single nucleotide variant (5 prime UTR variant +2 more)	Cleidocranial dysostosis	GUncertain significance
Select item 357087	NM_003599.4(SUPT3H):c.101+36538A>G	RUNX2, SUPT3H	Single nucleotide variant (5 prime UTR variant +2 more)	Cleidocranial dysostosis	GBenign
Select item 357086	NM_003599.4(SUPT3H):c.101+36554C>A	LOC109611593, RUNX2 +1 more	Single nucleotide variant (intron variant)	Cleidocranial dysostosis	GBenign
Select item 357085	NM_003599.4(SUPT3H):c.101+36794A>G	LOC109611593, RUNX2 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	Cleidocranial dysostosis	GBenign

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Links from Gene

Items: 22