Related gene-specific medical variations for Gene (Select 51081) - ClinVar

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Items: 22

	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 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	MRPS7, GGA3	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 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 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 1706435	NM_015971.4(MRPS7):c.373A>T (p.Lys125Ter)	MRPS7 (K125*)	Single nucleotide variant (nonsense)	Sensorineural hearing loss disorder +1 more	GLikely pathogenic
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	MRPS7, GGA3	Deletion (intron variant)	not provided	GBenign
Select item 676154	NM_015971.4(MRPS7):c.83+23C>G	MRPS7, GGA3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 676153	NM_015971.4(MRPS7):c.83+22G>C	GGA3, MRPS7	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 511632	NM_015971.4(MRPS7):c.66T>C (p.Ala22=)	GGA3, MRPS7	Single nucleotide variant (synonymous variant +1 more)	not provided +1 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)	Combined oxidative phosphorylation deficiency 34 +2 more	GBenign

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Links from Gene

Items: 22