Related gene-specific medical variations for Gene (Select 23163) - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3209718	NM_015971.4(MRPS7):c.11C>G (p.Pro4Arg)	GGA3, MRPS7 (P4R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099566	NM_138619.4(GGA3):c.1159C>G (p.Leu387Val)	GGA3, LOC125316793 (L387V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099565	NM_138619.4(GGA3):c.1123G>C (p.Glu375Gln)	GGA3, LOC125316793 (E253Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3013826	NM_015971.4(MRPS7):c.25G>A (p.Ala9Thr)	GGA3, MRPS7 (A9T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2995840	NM_015971.4(MRPS7):c.83+16G>T	GGA3, MRPS7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994666	NM_015971.4(MRPS7):c.83+23_83+25del	GGA3, MRPS7	Microsatellite (intron variant)	not provided	GBenign
Select item 2887868	NM_015971.4(MRPS7):c.62G>A (p.Arg21Gln)	GGA3, MRPS7 (R21Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2321873	NM_138619.4(GGA3):c.1174G>A (p.Glu392Lys)	GGA3, LOC125316793 (E320K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299136	NM_015971.4(MRPS7):c.80C>T (p.Pro27Leu)	GGA3, MRPS7 (P27L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2062928	NM_024844.5(NUP85):c.1399C>T (p.Arg467Cys)	NUP85, GGA3 (R467C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2044867	NM_024844.5(NUP85):c.1625G>A (p.Arg542His)	GGA3, NUP85 (R496H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1911358	NM_015971.4(MRPS7):c.21G>C (p.Lys7Asn)	GGA3, MRPS7 (K7N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1318189	NM_015971.4(MRPS7):c.83+22dup	GGA3, MRPS7	Duplication (intron variant)	not provided	GLikely benign
Select item 1316110	NM_015971.4(MRPS7):c.83+23C>T	GGA3, MRPS7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296485	NM_015971.4(MRPS7):c.83+29G>T	GGA3, MRPS7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263999	NM_015971.4(MRPS7):c.83+23_83+24del	GGA3, MRPS7	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1258115	NM_015971.4(MRPS7):c.83+137G>T	GGA3, MRPS7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251728	NM_015971.4(MRPS7):c.83+21_83+22del	GGA3, MRPS7	Deletion (intron variant)	not provided	GBenign
Select item 1231509	NM_015971.4(MRPS7):c.83+23del	GGA3, MRPS7	Deletion (intron variant)	not provided	GBenign
Select item 1030881	NM_024844.5(NUP85):c.1465T>C (p.Trp489Arg)	GGA3, NUP85 (W443R +2 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 17	GUncertain significance
Select item 676154	NM_015971.4(MRPS7):c.83+23C>G	GGA3, MRPS7	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency 34 +1 more	GBenign
Select item 676153	NM_015971.4(MRPS7):c.83+22G>C	MRPS7, GGA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671366	NM_015971.4(MRPS7):c.83+245T>G	GGA3, MRPS7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 590318	NM_024844.5(NUP85):c.1741G>C (p.Ala581Pro)	GGA3, NUP85 (A581P +2 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 17	GLikely pathogenic
Select item 590316	NM_024844.5(NUP85):c.1933C>T (p.Arg645Trp)	GGA3, NUP85 (R645W +2 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 17	GLikely pathogenic
Select item 590315	NM_024844.5(NUP85):c.1430C>T (p.Ala477Val)	NUP85, GGA3 (A477V +2 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 17	GUncertain significance
Select item 511632	NM_015971.4(MRPS7):c.66T>C (p.Ala22=)	GGA3, MRPS7	Single nucleotide variant (synonymous variant +1 more)	MRPS7-related disorder +2 more	GLikely benign
Select item 390699	NM_015971.4(MRPS7):c.27C>T (p.Ala9=)	GGA3, MRPS7	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 380587	NM_015971.4(MRPS7):c.47C>T (p.Ala16Val)	GGA3, MRPS7 (A16V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 379995	NM_015971.4(MRPS7):c.5C>T (p.Ala2Val)	GGA3, MRPS7 (A2V)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign

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Links from Gene

Items: 30