19665[HGNC] - ClinVar

Search results

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	LOC129389719, LOC129389720 +866 more	Copy number gain	See cases	GPathogenic
Select item 58452	GRCh38/hg38 6q24.2-25.2(chr6:144932561-152985364)x1	ADGB, ADGB-DT +227 more	Copy number loss	See cases	GPathogenic
Select item 57320	GRCh38/hg38 6q24.3-25.1(chr6:146481119-151427629)x1	LOC132089373, LOC132090771 +172 more	Copy number loss	See cases	GPathogenic
Select item 3033968	NM_001127715.4(STXBP5):c.-6G>A	LOC129997394, STXBP5 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	STXBP5-related disorder	GBenign
Select item 3171806	NM_001127715.4(STXBP5):c.14A>G (p.Asn5Ser)	LOC129997394, STXBP5 +1 more (N5S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171810	NM_001127715.4(STXBP5):c.173A>G (p.Tyr58Cys)	STXBP5 (Y58C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485367	NM_001127715.4(STXBP5):c.202G>C (p.Val68Leu)	STXBP5 (V68L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046209	NM_001127715.4(STXBP5):c.249C>T (p.Leu83=)	STXBP5	Single nucleotide variant (synonymous variant)	STXBP5-related disorder	GLikely benign
Select item 2467770	NM_001127715.4(STXBP5):c.382C>T (p.Arg128Cys)	STXBP5 (R128C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217891	NM_001127715.4(STXBP5):c.400A>G (p.Ile134Val)	STXBP5 (I134V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038990	NM_001127715.4(STXBP5):c.537C>T (p.Tyr179=)	STXBP5	Single nucleotide variant (synonymous variant)	STXBP5-related disorder	GLikely benign
Select item 2410405	NM_001127715.4(STXBP5):c.622G>A (p.Glu208Lys)	STXBP5 (E208K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656980	NM_001127715.4(STXBP5):c.631-6T>C	STXBP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2465735	NM_001127715.4(STXBP5):c.631C>G (p.Leu211Val)	STXBP5 (L211V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042400	NM_001127715.4(STXBP5):c.693C>T (p.Asp231=)	STXBP5	Single nucleotide variant (synonymous variant)	STXBP5-related disorder	GLikely benign
Select item 2260378	NM_001127715.4(STXBP5):c.746G>A (p.Gly249Glu)	STXBP5 (G249E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522037	NM_001127715.4(STXBP5):c.778A>G (p.Thr260Ala)	STXBP5 (T260A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050222	NM_001127715.4(STXBP5):c.787A>G (p.Ile263Val)	STXBP5 (I263V)	Single nucleotide variant (missense variant)	STXBP5-related disorder	GLikely benign
Select item 3040910	NM_001127715.4(STXBP5):c.798A>G (p.Val266=)	STXBP5	Single nucleotide variant (synonymous variant)	STXBP5-related disorder	GLikely benign
Select item 3046143	NM_001127715.4(STXBP5):c.1080A>G (p.Gln360=)	STXBP5	Single nucleotide variant (synonymous variant)	STXBP5-related disorder	GLikely benign
Select item 2637051	NM_001127715.4(STXBP5):c.1141A>G (p.Asn381Asp)	STXBP5 (N381D)	Single nucleotide variant (missense variant)	STXBP5-related disorder	GUncertain significance
Select item 757956	NM_001127715.4(STXBP5):c.1206C>T (p.Cys402=)	STXBP5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656981	NM_001127715.4(STXBP5):c.1234C>G (p.Leu412Val)	STXBP5 (L412V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3029329	NM_001127715.4(STXBP5):c.1480A>G (p.Thr494Ala)	STXBP5 (T494A)	Single nucleotide variant (missense variant)	STXBP5-related disorder	GUncertain significance
Select item 779426	NM_001127715.4(STXBP5):c.1505A>G (p.Tyr502Cys)	STXBP5 (Y502C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3059611	NM_001127715.4(STXBP5):c.1575C>G (p.Val525=)	STXBP5	Single nucleotide variant (synonymous variant)	STXBP5-related disorder	GLikely benign
Select item 3171808	NM_001127715.4(STXBP5):c.1622C>T (p.Pro541Leu)	STXBP5 (P541L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052507	NM_001127715.4(STXBP5):c.1623+9G>A	STXBP5	Single nucleotide variant (intron variant)	STXBP5-related disorder	GLikely benign
Select item 2378237	NM_001127715.4(STXBP5):c.1646A>G (p.Tyr549Cys)	STXBP5 (Y549C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171809	NM_001127715.4(STXBP5):c.1651A>T (p.Ile551Leu)	STXBP5 (I551L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408989	NM_001127715.4(STXBP5):c.1657G>A (p.Asp553Asn)	STXBP5 (D553N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523469	NM_001127715.4(STXBP5):c.1675G>T (p.Gly559Cys)	STXBP5 (G559C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591014	NM_001127715.4(STXBP5):c.1781G>T (p.Arg594Leu)	STXBP5 (R594L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3036733	NM_001127715.4(STXBP5):c.1791A>G (p.Val597=)	STXBP5	Single nucleotide variant (synonymous variant)	STXBP5-related disorder	GLikely benign
Select item 3024892	NM_001127715.4(STXBP5):c.1797T>C (p.Cys599=)	STXBP5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3171811	NM_001127715.4(STXBP5):c.1958C>T (p.Ala653Val)	STXBP5 (A653V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351631	NM_001127715.4(STXBP5):c.1982C>A (p.Ala661Glu)	STXBP5 (A661E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336492	NM_001127715.4(STXBP5):c.2006T>C (p.Ile669Thr)	STXBP5 (I669T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773329	NM_001127715.4(STXBP5):c.2013A>G (p.Leu671=)	STXBP5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3323486	NM_001127715.4(STXBP5):c.2036G>A (p.Arg679Gln)	STXBP5 (R679Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2633241	NM_001127715.4(STXBP5):c.2048G>T (p.Arg683Leu)	STXBP5 (R683L)	Single nucleotide variant (missense variant)	STXBP5-related disorder	GUncertain significance
Select item 3061055	NM_001127715.4(STXBP5):c.2050T>G (p.Ser684Ala)	STXBP5 (S684A)	Single nucleotide variant (missense variant)	STXBP5-related disorder	GUncertain significance
Select item 3171813	NM_001127715.4(STXBP5):c.2056C>T (p.Arg686Cys)	STXBP5 (R686C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535366	NM_001127715.4(STXBP5):c.2057G>A (p.Arg686His)	STXBP5 (R686H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339211	NM_001127715.4(STXBP5):c.2105G>A (p.Gly702Glu)	STXBP5 (G702E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656982	NM_001127715.4(STXBP5):c.2106G>A (p.Gly702=)	STXBP5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2459714	NM_001127715.4(STXBP5):c.2110G>T (p.Val704Phe)	STXBP5 (V704F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171814	NM_001127715.4(STXBP5):c.2116C>T (p.Pro706Ser)	STXBP5 (P706S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342311	NM_001127715.4(STXBP5):c.2153C>T (p.Ser718Leu)	STXBP5 (S718L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171815	NM_001127715.4(STXBP5):c.2179C>A (p.Gln727Lys)	STXBP5 (Q727K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3348783	NM_001127715.4(STXBP5):c.2182A>C (p.Lys728Gln)	STXBP5 (K728Q)	Single nucleotide variant (missense variant +1 more)	STXBP5-related disorder	GUncertain significance
Select item 2531137	NM_001127715.4(STXBP5):c.2234A>G (p.Lys745Arg)	STXBP5 (K745R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463960	NM_001127715.4(STXBP5):c.2249A>G (p.Asp750Gly)	STXBP5 (D750G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3039607	NM_001127715.4(STXBP5):c.2254+9T>C	STXBP5	Single nucleotide variant (intron variant)	STXBP5-related disorder	GLikely benign
Select item 157029	NC_000006.12:g.147348950_147402441dup	STXBP5, LOC129389678 +1 more	Duplication	Small for gestational age	Gnot provided
Select item 786409	NM_001127715.4(STXBP5):c.2255-9A>G	STXBP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 778266	NM_001127715.4(STXBP5):c.2262G>A (p.Met754Ile)	STXBP5 (M718I +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3171817	NM_001127715.4(STXBP5):c.2330G>A (p.Arg777Gln)	STXBP5 (R741Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2633433	NM_001127715.4(STXBP5):c.2356A>G (p.Ile786Val)	STXBP5 (I750V +2 more)	Single nucleotide variant (missense variant)	STXBP5-related disorder	GUncertain significance
Select item 2537073	NM_001127715.4(STXBP5):c.2389C>A (p.Leu797Ile)	STXBP5 (L761I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044211	NM_001127715.4(STXBP5):c.2406G>A (p.Thr802=)	STXBP5	Single nucleotide variant (synonymous variant)	STXBP5-related disorder	GLikely benign
Select item 791278	NM_001127715.4(STXBP5):c.2413C>A (p.Arg805=)	STXBP5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2430039	NM_001127715.4(STXBP5):c.2498_2499insT (p.Gly834fs)	STXBP5 (G798fs +2 more)	Insertion (frameshift variant)	Autism spectrum disorder	GLikely benign
Select item 3171818	NM_001127715.4(STXBP5):c.2537C>T (p.Ser846Phe)	STXBP5 (S830F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237085	NM_001127715.4(STXBP5):c.2553A>G (p.Ile851Met)	STXBP5 (I815M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 624271	NM_001127715.4(STXBP5):c.2559G>T (p.Arg853Ser)	STXBP5 (R817S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3171819	NM_001127715.4(STXBP5):c.2576T>G (p.Leu859Trp)	STXBP5 (L843W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783477	NM_001127715.4(STXBP5):c.2616A>G (p.Pro872=)	STXBP5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2327255	NM_001127715.4(STXBP5):c.2617C>G (p.Pro873Ala)	STXBP5 (P857A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363800	NM_001127715.4(STXBP5):c.2686C>T (p.Arg896Trp)	STXBP5 (R896W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3347403	NM_001127715.4(STXBP5):c.2726T>C (p.Ile909Thr)	STXBP5 (I873T +2 more)	Single nucleotide variant (missense variant)	STXBP5-related disorder	GUncertain significance
Select item 2604430	NM_001127715.4(STXBP5):c.2966A>G (p.Asn989Ser)	STXBP5 (N973S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488002	NM_001127715.4(STXBP5):c.2972G>A (p.Arg991Gln)	STXBP5 (R975Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315086	NM_001127715.4(STXBP5):c.3047T>C (p.Leu1016Pro)	STXBP5 (L980P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306081	NM_001127715.4(STXBP5):c.3074A>G (p.Asn1025Ser)	STXBP5 (N989S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 157030	CM000668.1:g.147685480_147723577dup	STXBP5	Duplication	Normal pregnancy	Gnot provided
Select item 722373	NM_001127715.4(STXBP5):c.3236A>T (p.Gln1079Leu)	STXBP5 (Q1079L +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2482313	NM_001127715.4(STXBP5):c.3242T>C (p.Ile1081Thr)	STXBP5 (I1045T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309110	NM_001127715.4(STXBP5):c.3254G>C (p.Gly1085Ala)	STXBP5 (G1069A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398331	NM_001127715.4(STXBP5):c.3362G>A (p.Arg1121Lys)	STXBP5 (R1085K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2632504	NM_001127715.4(STXBP5):c.3375G>C (p.Met1125Ile)	STXBP5 (M1089I +2 more)	Single nucleotide variant (missense variant)	STXBP5-related disorder	GUncertain significance
Select item 3041200	NM_001127715.4(STXBP5):c.3393A>G (p.Ser1131=)	STXBP5	Single nucleotide variant (synonymous variant)	STXBP5-related disorder	GBenign
Select item 2636554	NM_001127715.4(STXBP5):c.3423G>C (p.Leu1141Phe)	STXBP5 (L1105F +2 more)	Single nucleotide variant (missense variant)	STXBP5-related disorder	GUncertain significance
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 1527302	GRCh37/hg19 6q24.2-24.3(chr6:145449900-148319443)	ADGB, EPM2A +6 more	Copy number gain	not specified	GUncertain significance
Select item 563240	GRCh37/hg19 6q24.2-25.1(chr6:144947731-150266155)x1	ADGB, EPM2A +22 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442470	GRCh37/hg19 6q24.1-25.1(chr6:139513020-150389231)x1	ADAT2, ADGB +42 more	Copy number loss	See cases	GPathogenic
Select item 394905	GRCh37/hg19 6q24.2-25.1(chr6:144075695-152337005)x1	ADGB, AKAP12 +42 more	Copy number loss	See cases	GPathogenic
Select item 394473	GRCh37/hg19 6q24.3(chr6:147414837-148054286)x3	SAMD5, STXBP5	Copy number gain	See cases	GUncertain significance

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Items: 93