Related gene-specific medical variations for Gene (Select 90135) - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3262018	NM_001387567.1(BTBD6):c.1403C>A (p.Pro468Gln)	BRF1, BTBD6 (P468Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262017	NM_001387567.1(BTBD6):c.335G>A (p.Ser112Asn)	BRF1, BTBD6 (S112N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262016	NM_001387567.1(BTBD6):c.1520G>A (p.Cys507Tyr)	BRF1, BTBD6 (C507Y +1 more)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 3234247	NM_001387567.1(BTBD6):c.1452G>A (p.Thr484=)	BTBD6, BRF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3135436	NM_001387567.1(BTBD6):c.1124G>A (p.Arg375His)	BRF1, BTBD6 (R375H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135435	NM_001387567.1(BTBD6):c.1123C>T (p.Arg375Cys)	BRF1, BTBD6 (R375C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135434	NM_001387567.1(BTBD6):c.1018A>C (p.Thr340Pro)	BRF1, BTBD6 (T340P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135433	NM_001387567.1(BTBD6):c.166G>A (p.Ala56Thr)	BRF1, BTBD6 (A56T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135432	NM_001387567.1(BTBD6):c.837G>T (p.Glu279Asp)	BRF1, BTBD6 (E226D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135431	NM_001387567.1(BTBD6):c.179C>G (p.Ala60Gly)	BRF1, BTBD6 (A7G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135430	NM_001387567.1(BTBD6):c.295G>C (p.Ala99Pro)	BRF1, BTBD6 (A99P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135429	NM_001387567.1(BTBD6):c.1451C>T (p.Thr484Met)	BRF1, BTBD6 (T431M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135428	NM_001387567.1(BTBD6):c.1444T>C (p.Phe482Leu)	BRF1, BTBD6 (F429L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135427	NM_001387567.1(BTBD6):c.1222G>A (p.Gly408Arg)	BRF1, BTBD6 (G355R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2644913	NM_001387567.1(BTBD6):c.1462G>A (p.Val488Ile)	BTBD6, BRF1 (V435I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2644912	NM_001387567.1(BTBD6):c.1182C>T (p.Phe394=)	BRF1, BTBD6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2644911	NM_001387567.1(BTBD6):c.933G>A (p.Ala311=)	BRF1, BTBD6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2644910	NM_001387567.1(BTBD6):c.618C>G (p.Ala206=)	BRF1, BTBD6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2600107	NM_001387567.1(BTBD6):c.683G>A (p.Cys228Tyr)	BRF1, BTBD6 (C175Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555231	NM_001387567.1(BTBD6):c.1184A>C (p.Gln395Pro)	BRF1, BTBD6 (Q342P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532961	NM_001387567.1(BTBD6):c.1410G>C (p.Trp470Cys)	BRF1, BTBD6 (W470C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520782	NM_001387567.1(BTBD6):c.1159G>A (p.Ala387Thr)	BRF1, BTBD6 (A334T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508290	NM_001387567.1(BTBD6):c.892G>A (p.Glu298Lys)	BTBD6, BRF1 (E245K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491307	NM_001387567.1(BTBD6):c.1156C>T (p.Leu386Phe)	BRF1, BTBD6 (L386F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480002	NM_001387567.1(BTBD6):c.547C>T (p.Pro183Ser)	BRF1, BTBD6 (P130S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455180	NM_001387567.1(BTBD6):c.972C>G (p.Asn324Lys)	BRF1, BTBD6 (N271K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358138	NM_001387567.1(BTBD6):c.271C>T (p.Pro91Ser)	BRF1, BTBD6 (P38S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349412	NM_001387567.1(BTBD6):c.979C>T (p.His327Tyr)	BRF1, BTBD6 (H274Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345919	NM_001387567.1(BTBD6):c.1337G>A (p.Arg446Gln)	BRF1, BTBD6 (R393Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342540	NM_001387567.1(BTBD6):c.187A>G (p.Ser63Gly)	BRF1, BTBD6 (S63G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336815	NM_001387567.1(BTBD6):c.1613C>T (p.Ala538Val)	BRF1, BTBD6 (A485V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306680	NM_001387567.1(BTBD6):c.1222G>C (p.Gly408Arg)	BRF1, BTBD6 (G355R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2305091	NM_001387567.1(BTBD6):c.1558A>G (p.Ser520Gly)	BRF1, BTBD6 (S467G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302720	NM_001387567.1(BTBD6):c.439G>A (p.Ala147Thr)	BRF1, BTBD6 (A147T +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2297368	NM_001387567.1(BTBD6):c.1391G>A (p.Ser464Asn)	BRF1, BTBD6 (S464N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281015	NM_001387567.1(BTBD6):c.992G>A (p.Arg331Gln)	BRF1, BTBD6 (R331Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279158	NM_001387567.1(BTBD6):c.937T>G (p.Cys313Gly)	BRF1, BTBD6 (C313G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268526	NM_001387567.1(BTBD6):c.1048G>A (p.Ala350Thr)	BRF1, BTBD6 (A297T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265052	NM_001387567.1(BTBD6):c.313C>T (p.Leu105Phe)	BRF1, BTBD6 (L105F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259712	NM_001387567.1(BTBD6):c.595A>C (p.Ser199Arg)	BRF1, BTBD6 (S146R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256634	NM_001387567.1(BTBD6):c.817C>T (p.Arg273Trp)	BRF1, BTBD6 (R220W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209784	NM_001387567.1(BTBD6):c.1018A>G (p.Thr340Ala)	BRF1, BTBD6 (T287A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Links from Gene

Items: 42