Related gene-specific medical variations for Gene (Select 100532736) - ClinVar

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Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3294797	NM_001204088.2(MICOS10-NBL1):c.16C>A (p.Gln6Lys)	MICOS10, MICOS10-NBL1 (Q6K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3126311	NM_001204088.2(MICOS10-NBL1):c.529C>T (p.Pro177Ser)	MICOS10-NBL1, NBL1 (P177S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126310	NM_001204088.2(MICOS10-NBL1):c.520G>A (p.Gly174Arg)	MICOS10-NBL1, NBL1 (G174R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126309	NM_001204088.2(MICOS10-NBL1):c.481G>A (p.Gly161Ser)	MICOS10-NBL1, NBL1 (G147S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126308	NM_001204088.2(MICOS10-NBL1):c.449T>C (p.Val150Ala)	MICOS10-NBL1, NBL1 (V150A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126307	NM_001204088.2(MICOS10-NBL1):c.442G>C (p.Val148Leu)	MICOS10-NBL1, NBL1 (V169L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126306	NM_001204088.2(MICOS10-NBL1):c.432G>C (p.Glu144Asp)	MICOS10-NBL1, NBL1 (E164D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126305	NM_001204088.2(MICOS10-NBL1):c.407C>A (p.Ala136Asp)	MICOS10-NBL1, NBL1 (A136D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126304	NM_001204088.2(MICOS10-NBL1):c.406G>A (p.Ala136Thr)	MICOS10-NBL1, NBL1 (A122T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126303	NM_001204088.2(MICOS10-NBL1):c.359C>A (p.Pro120His)	MICOS10-NBL1, NBL1 (P106H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126302	NM_001204088.2(MICOS10-NBL1):c.341C>T (p.Pro114Leu)	MICOS10-NBL1, NBL1 (P100L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126301	NM_001204088.2(MICOS10-NBL1):c.227A>G (p.Gln76Arg)	MICOS10-NBL1, NBL1 (Q62R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126299	NM_001032363.4(MICOS10):c.68C>G (p.Thr23Ser)	MICOS10, MICOS10-NBL1 (T23S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3126298	NM_001032363.4(MICOS10):c.62T>C (p.Ile21Thr)	MICOS10, MICOS10-NBL1 (I21T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3126297	NM_001032363.4(MICOS10):c.47A>G (p.Asp16Gly)	MICOS10, MICOS10-NBL1 (D16G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3126296	NM_001032363.4(MICOS10):c.44C>T (p.Ala15Val)	MICOS10, MICOS10-NBL1 (A15V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3126295	NM_001032363.4(MICOS10):c.223-836C>A	MICOS10, MICOS10-NBL1 (P128T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126294	NM_001032363.4(MICOS10):c.14A>C (p.Glu5Ala)	LOC129929576, MICOS10 +1 more (E5A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2611948	NM_001032363.4(MICOS10):c.220A>C (p.Lys74Gln)	MICOS10, MICOS10-NBL1 (K58Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2603808	NM_001032363.4(MICOS10):c.7G>A (p.Glu3Lys)	LOC129929576, MICOS10 +1 more (E3K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2359745	NM_182744.4(NBL1):c.55C>T (p.Pro19Ser)	MICOS10-NBL1, NBL1 (P19S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance

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Links from Gene

Items: 21