Related gene-specific medical variations for Gene (Select 265) - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376363	NM_001142.2(AMELX):c.144+1G>A	AMELX, ARHGAP6	Single nucleotide variant (intron variant +1 more)	Amelogenesis imperfecta type 1E	GLikely pathogenic
Select item 3340173	NM_001142.2(AMELX):c.11G>A (p.Trp4Ter)	AMELX, ARHGAP6 (W4*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 3256889	NM_001142.2(AMELX):c.167C>T (p.Pro56Leu)	AMELX, ARHGAP6 (P40L +2 more)	Single nucleotide variant (missense variant +1 more)	Amelogenesis imperfecta type 1E	GPathogenic
Select item 3115060	NM_001142.2(AMELX):c.419T>G (p.Met140Arg)	AMELX, ARHGAP6 (M124R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3051823	NM_001142.2(AMELX):c.225G>A (p.Pro75=)	AMELX, ARHGAP6	Single nucleotide variant (synonymous variant +1 more)	AMELX-related disorder	GLikely benign
Select item 3042941	NM_001142.2(AMELX):c.366C>T (p.Pro122=)	AMELX, ARHGAP6	Single nucleotide variant (synonymous variant +1 more)	AMELX-related disorder	GLikely benign
Select item 2659989	NM_001142.2(AMELX):c.279C>T (p.Pro93=)	AMELX, ARHGAP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2659988	NM_001142.2(AMELX):c.126C>T (p.Tyr42=)	AMELX, ARHGAP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2610126	NM_001142.2(AMELX):c.457C>A (p.Pro153Thr)	AMELX, ARHGAP6 (P137T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2489001	NM_001142.2(AMELX):c.171G>A (p.Met57Ile)	AMELX, ARHGAP6 (M41I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2445234	NM_001142.2(AMELX):c.47C>A (p.Ala16Asp)	AMELX, ARHGAP6 (A16D)	Single nucleotide variant (missense variant +1 more)	Amelogenesis imperfecta type 1E	GLikely pathogenic
Select item 2404463	NM_001142.2(AMELX):c.307G>A (p.Val103Ile)	AMELX, ARHGAP6 (V103I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2362820	NM_001142.2(AMELX):c.103-111A>G	AMELX, ARHGAP6 (N42S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2275114	NM_001142.2(AMELX):c.170T>C (p.Met57Thr)	AMELX, ARHGAP6 (M41T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1323884	NM_001142.2(AMELX):c.289C>T (p.Gln97Ter)	AMELX, ARHGAP6 (Q111* +2 more)	Single nucleotide variant (nonsense +1 more)	Amelogenesis imperfecta type 1E	GLikely pathogenic
Select item 1281204	NM_001142.2(AMELX):c.54+65T>C	AMELX, ARHGAP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276391	NM_001142.2(AMELX):c.55-265G>A	AMELX, ARHGAP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249778	NM_001142.2(AMELX):c.-12-300A>T	AMELX, ARHGAP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225016	NM_001142.2(AMELX):c.570+158G>A	ARHGAP6, AMELX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178767	NC_000023.11:g.11300828T>C	AMELX, ARHGAP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 757487	NM_001142.2(AMELX):c.570G>C (p.Val190=)	AMELX, ARHGAP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 747013	NM_001142.2(AMELX):c.336C>A (p.Ile112=)	AMELX, ARHGAP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 745099	NM_001142.2(AMELX):c.539C>A (p.Pro180Gln)	AMELX, ARHGAP6 (P164Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 742246	NM_001142.2(AMELX):c.144+8G>C	AMELX, ARHGAP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 735678	NM_001142.2(AMELX):c.474G>A (p.Leu158=)	AMELX, ARHGAP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 727433	NM_001142.2(AMELX):c.436G>T (p.Val146Leu)	AMELX, ARHGAP6 (V160L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 617639	NM_001142.2(AMELX):c.143del (p.Pro48fs)	AMELX, ARHGAP6 (P32fs +2 more)	Deletion (frameshift variant +1 more)	Amelogenesis imperfecta	GPathogenic
Select item 520691	NM_001142.2(AMELX):c.280G>A (p.Val94Met)	AMELX, ARHGAP6 (V108M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 262997	NM_001142.2(AMELX):c.219C>T (p.His73=)	AMELX, ARHGAP6	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 96978	NM_001142.2(AMELX):c.132C>A (p.Ser44Arg)	ARHGAP6, AMELX (S58R +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2	Gnot provided
Select item 96977	NM_001142.2(AMELX):c.131G>A (p.Ser44Asn)	AMELX, ARHGAP6 (S58N +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2	Gnot provided
Select item 96976	NM_001142.2(AMELX):c.129G>C (p.Gln43His)	AMELX, ARHGAP6 (Q57H +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2	Gnot provided
Select item 40897	NG_012494.1:g.363924_416577delinsA	AMELX	Indel	Amelogenesis imperfecta, type 1E, with snow-capped teeth	GPathogenic
Select item 11146	NM_001142.2(AMELX):c.11G>C (p.Trp4Ser)	AMELX, ARHGAP6 (W4S)	Single nucleotide variant (missense variant +1 more)	Amelogenesis imperfecta type 1E	GPathogenic
Select item 11145	NM_001142.2(AMELX):c.2T>C (p.Met1Thr)	AMELX, ARHGAP6 (M1T)	Single nucleotide variant (missense variant +2 more)	Amelogenesis imperfecta type 1E	GPathogenic
Select item 11144	NM_001142.2(AMELX):c.378del (p.Tyr127fs)	AMELX, ARHGAP6 (Y111fs +2 more)	Deletion (frameshift variant +1 more)	Amelogenesis imperfecta type 1E	GPathogenic
Select item 11143	NM_001142.2(AMELX):c.499del (p.Leu167fs)	AMELX, ARHGAP6 (L181fs +2 more)	Deletion (frameshift variant +1 more)	Amelogenesis imperfecta type 1E	GPathogenic
Select item 11142	NM_001142.2(AMELX):c.166C>A (p.Pro56Thr)	AMELX, ARHGAP6 (P70T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 11141	NM_001142.2(AMELX):c.529G>T (p.Glu177Ter)	AMELX, ARHGAP6 (E191* +2 more)	Single nucleotide variant (nonsense +1 more)	Amelogenesis imperfecta type 1E	GPathogenic
Select item 11140	NM_001142.2(AMELX):c.110C>T (p.Thr37Ile)	AMELX, ARHGAP6 (T51I +2 more)	Single nucleotide variant (missense variant +1 more)	Amelogenesis imperfecta type 1E	GPathogenic
Select item 11139	NM_001142.2(AMELX):c.431del (p.Pro144fs)	ARHGAP6, AMELX (P128fs +2 more)	Deletion (frameshift variant +1 more)	Amelogenesis imperfecta type 1E	GPathogenic
Select item 11138	NM_001142.2(AMELX):c.14_22del (p.Ile5_Ala8delinsThr)	AMELX, ARHGAP6	Deletion (inframe_indel +1 more)	Amelogenesis imperfecta type 1E	GPathogenic
Select item 11137	NM_001142.2(AMELX):c.113del (p.Pro38fs)	AMELX, ARHGAP6 (P22fs +2 more)	Deletion (frameshift variant +1 more)	Amelogenesis imperfecta type 1E	GPathogenic
Select item 11136	NM_001287242.1(ARHGAP6):c.49-45951_49-41228del	AMELX, ARHGAP6	Deletion	Amelogenesis imperfecta type 1E	GPathogenic

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Links from Gene

Items: 44