TUBD1[gene] and "single gene"[properties] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2270938	NM_016261.4(TUBD1):c.1351T>A (p.Cys451Ser)	TUBD1 (C235S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482975	NM_016261.4(TUBD1):c.1277A>G (p.Tyr426Cys)	TUBD1 (Y369C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235829	NM_016261.4(TUBD1):c.1260A>C (p.Lys420Asn)	TUBD1 (R363S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357981	NM_016261.4(TUBD1):c.1118C>T (p.Pro373Leu)	TUBD1 (P199L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330217	NM_016261.4(TUBD1):c.1066G>A (p.Ala356Thr)	TUBD1 (A182T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184766	NM_016261.4(TUBD1):c.1046G>A (p.Arg349His)	TUBD1 (R349H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526795	NM_016261.4(TUBD1):c.979C>T (p.Leu327Phe)	TUBD1 (L111F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2567965	NM_016261.4(TUBD1):c.973C>T (p.Pro325Ser)	TUBD1 (P109S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304418	NM_016261.4(TUBD1):c.902A>G (p.Gln301Arg)	TUBD1 (Q301R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330216	NM_016261.4(TUBD1):c.763C>T (p.Pro255Ser)	TUBD1 (P255S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472646	NM_016261.4(TUBD1):c.758G>A (p.Arg253Gln)	TUBD1 (R37Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524032	NM_016261.4(TUBD1):c.733G>T (p.Ala245Ser)	TUBD1 (A126S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373989	NM_016261.4(TUBD1):c.698A>T (p.His233Leu)	TUBD1 (H114L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316596	NM_016261.4(TUBD1):c.631A>G (p.Lys211Glu)	TUBD1 (K211E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230354	NM_016261.4(TUBD1):c.604C>T (p.Leu202Phe)	TUBD1 (L202F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184771	NM_016261.4(TUBD1):c.508C>G (p.Gln170Glu)	TUBD1 (Q170E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537783	NM_016261.4(TUBD1):c.371G>A (p.Arg124Gln)	TUBD1 (R124Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2494627	NM_016261.4(TUBD1):c.349G>A (p.Glu117Lys)	TUBD1 (E117K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3184770	NM_016261.4(TUBD1):c.341G>A (p.Arg114Lys)	TUBD1 (R114K)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2543528	NM_016261.4(TUBD1):c.337C>T (p.Pro113Ser)	TUBD1 (P113S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2206902	NM_016261.4(TUBD1):c.284G>A (p.Cys95Tyr)	TUBD1 (C95Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3061819	NM_016261.4(TUBD1):c.280T>C (p.Phe94Leu)	TUBD1 (F94L)	Single nucleotide variant (missense variant +2 more)	Polydactyly	GUncertain significance
Select item 3330214	NM_016261.4(TUBD1):c.218T>C (p.Ile73Thr)	TUBD1 (I73T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3184769	NM_016261.4(TUBD1):c.178A>G (p.Ile60Val)	TUBD1 (I60V)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3184768	NM_016261.4(TUBD1):c.162G>C (p.Glu54Asp)	TUBD1 (E54D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 778719	NM_016261.4(TUBD1):c.156T>C (p.Ser52=)	TUBD1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3184767	NM_016261.4(TUBD1):c.106A>C (p.Met36Leu)	TUBD1 (M36L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2225506	NM_016261.4(TUBD1):c.106A>G (p.Met36Val)	TUBD1 (M36V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3330215	NM_016261.4(TUBD1):c.10G>A (p.Val4Ile)	TUBD1 (V4I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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Items: 29