HDHD2[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3283731	NM_032124.5(HDHD2):c.727A>G (p.Thr243Ala)	HDHD2 (T243A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611436	NM_032124.5(HDHD2):c.607G>A (p.Gly203Arg)	HDHD2 (G113R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555262	NM_032124.5(HDHD2):c.548C>A (p.Thr183Lys)	HDHD2 (T93K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225398	NM_032124.5(HDHD2):c.529G>A (p.Val177Met)	HDHD2 (V87M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104695	NM_032124.5(HDHD2):c.526G>A (p.Val176Ile)	HDHD2 (V176I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258694	NM_032124.5(HDHD2):c.502T>C (p.Tyr168His)	HDHD2 (Y78H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104694	NM_032124.5(HDHD2):c.460G>A (p.Gly154Ser)	HDHD2 (G154S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354541	NM_032124.5(HDHD2):c.394C>T (p.Arg132Trp)	HDHD2 (R132W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265119	NM_032124.5(HDHD2):c.344T>C (p.Met115Thr)	HDHD2 (M25T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278891	NM_032124.5(HDHD2):c.335C>T (p.Ala112Val)	HDHD2 (A112V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283732	NM_032124.5(HDHD2):c.304T>A (p.Phe102Ile)	HDHD2 (F12I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292407	NM_032124.5(HDHD2):c.218T>C (p.Phe73Ser)	HDHD2 (F73S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2519491	NM_032124.5(HDHD2):c.176G>A (p.Arg59Lys)	HDHD2 (R59K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3283729	NM_032124.5(HDHD2):c.143C>A (p.Thr48Lys)	HDHD2 (T48K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2318766	NM_032124.5(HDHD2):c.58A>G (p.Ile20Val)	HDHD2 (I20V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2330400	NM_032124.5(HDHD2):c.38A>T (p.Asp13Val)	HDHD2 (D13V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance