SPHKAP[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 162

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 58847	GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1	ACKR3, AGAP1 +393 more	Copy number loss	See cases	GPathogenic
Select item 58848	GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1	CCL20, CHRND +347 more	Copy number loss	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	LOC129935966, LOC129935967 +630 more	Copy number gain	See cases	GPathogenic
Select item 145863	GRCh38/hg38 2q36.3(chr2:227943840-228950413)x1	LINC01807, LOC126806542 +6 more	Copy number loss	See cases	GLikely benign
Select item 3322199	NM_001142644.2(SPHKAP):c.5066G>A (p.Arg1689Lys)	SPHKAP (R1660K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169071	NM_001142644.2(SPHKAP):c.5050G>A (p.Glu1684Lys)	SPHKAP (E1655K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169070	NM_001142644.2(SPHKAP):c.4988G>A (p.Arg1663Gln)	SPHKAP (R1634Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 788963	NM_001142644.2(SPHKAP):c.4972G>C (p.Val1658Leu)	SPHKAP (V1658L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3169069	NM_001142644.2(SPHKAP):c.4969G>T (p.Val1657Phe)	SPHKAP (V1628F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169068	NM_001142644.2(SPHKAP):c.4916C>A (p.Pro1639His)	SPHKAP (P1639H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374825	NM_001142644.2(SPHKAP):c.4910G>T (p.Gly1637Val)	SPHKAP (G1608V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322208	NM_001142644.2(SPHKAP):c.4906C>G (p.Leu1636Val)	SPHKAP (L1607V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2497699	NM_001142644.2(SPHKAP):c.4889G>A (p.Trp1630Ter)	SPHKAP (W1601* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3169066	NM_001142644.2(SPHKAP):c.4843C>G (p.Leu1615Val)	SPHKAP (L1586V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771702	NM_001142644.2(SPHKAP):c.4771G>A (p.Glu1591Lys)	SPHKAP (E1591K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 713062	NM_001142644.2(SPHKAP):c.4721+9C>A	SPHKAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2243427	NM_001142644.2(SPHKAP):c.4706C>A (p.Ser1569Tyr)	SPHKAP (S1569Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250518	NM_001142644.2(SPHKAP):c.4655C>T (p.Thr1552Ile)	SPHKAP (T1552I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527973	NM_001142644.2(SPHKAP):c.4525C>A (p.Pro1509Thr)	SPHKAP (P1509T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322214	NM_001142644.2(SPHKAP):c.4517C>G (p.Ala1506Gly)	SPHKAP (A1506G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169065	NM_001142644.2(SPHKAP):c.4516G>A (p.Ala1506Thr)	SPHKAP (A1506T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244053	NM_001142644.2(SPHKAP):c.4454G>A (p.Ser1485Asn)	SPHKAP (S1485N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 147843	GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3	LOC126806558, LOC126806559 +309 more	Copy number gain	See cases	GPathogenic
Select item 2312315	NM_001142644.2(SPHKAP):c.4445A>G (p.His1482Arg)	SPHKAP (H1482R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322198	NM_001142644.2(SPHKAP):c.4440A>C (p.Gln1480His)	SPHKAP (Q1480H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478845	NM_001142644.2(SPHKAP):c.4348A>G (p.Ser1450Gly)	SPHKAP (S1450G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651968	NM_001142644.2(SPHKAP):c.4320T>G (p.Ala1440=)	SPHKAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2592871	NM_001142644.2(SPHKAP):c.4268C>T (p.Ser1423Leu)	SPHKAP (S1423L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322194	NM_001142644.2(SPHKAP):c.4256G>A (p.Arg1419Gln)	SPHKAP (R1419Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471540	NM_001142644.2(SPHKAP):c.4252A>G (p.Arg1418Gly)	SPHKAP (R1418G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464215	NM_001142644.2(SPHKAP):c.4166A>G (p.Lys1389Arg)	SPHKAP (K1389R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169063	NM_001142644.2(SPHKAP):c.4123T>C (p.Ser1375Pro)	SPHKAP (S1375P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322211	NM_001142644.2(SPHKAP):c.4072A>G (p.Ser1358Gly)	SPHKAP (S1358G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467775	NM_001142644.2(SPHKAP):c.4054G>C (p.Ala1352Pro)	SPHKAP (A1352P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467774	NM_001142644.2(SPHKAP):c.4046A>G (p.Asn1349Ser)	SPHKAP (N1349S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351287	NM_001142644.2(SPHKAP):c.4012G>C (p.Gly1338Arg)	SPHKAP (G1338R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169062	NM_001142644.2(SPHKAP):c.4006G>A (p.Val1336Ile)	SPHKAP (V1336I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651969	NM_001142644.2(SPHKAP):c.3982G>A (p.Ala1328Thr)	SPHKAP (A1328T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2552765	NM_001142644.2(SPHKAP):c.3926C>T (p.Thr1309Met)	SPHKAP (T1309M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169061	NM_001142644.2(SPHKAP):c.3895G>C (p.Asp1299His)	SPHKAP (D1299H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484150	NM_001142644.2(SPHKAP):c.3893C>A (p.Thr1298Asn)	SPHKAP (T1298N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228285	NM_001142644.2(SPHKAP):c.3839C>T (p.Ala1280Val)	SPHKAP (A1280V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169060	NM_001142644.2(SPHKAP):c.3827C>T (p.Pro1276Leu)	SPHKAP (P1276L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169059	NM_001142644.2(SPHKAP):c.3808G>C (p.Asp1270His)	SPHKAP (D1270H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322196	NM_001142644.2(SPHKAP):c.3742A>G (p.Arg1248Gly)	SPHKAP (R1248G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322197	NM_001142644.2(SPHKAP):c.3730T>A (p.Ser1244Thr)	SPHKAP (S1244T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232398	NM_001142644.2(SPHKAP):c.3676C>T (p.Pro1226Ser)	SPHKAP (P1226S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589160	NM_001142644.2(SPHKAP):c.3641G>A (p.Arg1214Gln)	SPHKAP (R1214Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227447	NM_001142644.2(SPHKAP):c.3629C>A (p.Ala1210Asp)	SPHKAP (A1210D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390415	NM_001142644.2(SPHKAP):c.3625A>G (p.Ser1209Gly)	SPHKAP (S1209G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2544834	NM_001142644.2(SPHKAP):c.3615C>G (p.Asp1205Glu)	SPHKAP (D1205E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2472848	NM_001142644.2(SPHKAP):c.3607G>A (p.Glu1203Lys)	SPHKAP (E1203K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216560	NM_001142644.2(SPHKAP):c.3604A>G (p.Ile1202Val)	SPHKAP (I1202V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169058	NM_001142644.2(SPHKAP):c.3530G>A (p.Arg1177Lys)	SPHKAP (R1177K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169057	NM_001142644.2(SPHKAP):c.3505C>T (p.Arg1169Trp)	SPHKAP (R1169W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610030	NM_001142644.2(SPHKAP):c.3500C>T (p.Ala1167Val)	SPHKAP (A1167V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301144	NM_001142644.2(SPHKAP):c.3487G>A (p.Ala1163Thr)	SPHKAP (A1163T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516329	NM_001142644.2(SPHKAP):c.3326C>T (p.Pro1109Leu)	SPHKAP (P1109L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291263	NM_001142644.2(SPHKAP):c.3293A>G (p.Asn1098Ser)	SPHKAP (N1098S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169056	NM_001142644.2(SPHKAP):c.3280A>G (p.Arg1094Gly)	SPHKAP (R1094G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411547	NM_001142644.2(SPHKAP):c.3230G>A (p.Arg1077Gln)	SPHKAP (R1077Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351665	NM_001142644.2(SPHKAP):c.3223T>G (p.Trp1075Gly)	SPHKAP (W1075G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314689	NM_001142644.2(SPHKAP):c.3209T>C (p.Leu1070Pro)	SPHKAP (L1070P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231109	NM_001142644.2(SPHKAP):c.3182C>T (p.Ala1061Val)	SPHKAP (A1061V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169054	NM_001142644.2(SPHKAP):c.3149C>T (p.Thr1050Met)	SPHKAP (T1050M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472145	NM_001142644.2(SPHKAP):c.3144C>G (p.Asn1048Lys)	SPHKAP (N1048K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370719	NM_001142644.2(SPHKAP):c.3139A>G (p.Met1047Val)	SPHKAP (M1047V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227181	NM_001142644.2(SPHKAP):c.3065T>C (p.Val1022Ala)	SPHKAP (V1022A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559115	NM_001142644.2(SPHKAP):c.3061G>A (p.Val1021Ile)	SPHKAP (V1021I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322206	NM_001142644.2(SPHKAP):c.3025G>A (p.Glu1009Lys)	SPHKAP (E1009K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508100	NM_001142644.2(SPHKAP):c.3020C>T (p.Thr1007Met)	SPHKAP (T1007M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595332	NM_001142644.2(SPHKAP):c.2996G>A (p.Arg999Gln)	SPHKAP (R999Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309931	NM_001142644.2(SPHKAP):c.2744C>T (p.Thr915Met)	SPHKAP (T915M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2454569	NM_001142644.2(SPHKAP):c.2701C>A (p.Leu901Met)	SPHKAP (L901M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169053	NM_001142644.2(SPHKAP):c.2639A>G (p.His880Arg)	SPHKAP (H880R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169052	NM_001142644.2(SPHKAP):c.2631G>C (p.Glu877Asp)	SPHKAP (E877D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2298732	NM_001142644.2(SPHKAP):c.2564C>G (p.Ala855Gly)	SPHKAP (A855G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207837	NM_001142644.2(SPHKAP):c.2527A>G (p.Thr843Ala)	SPHKAP (T843A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551144	NM_001142644.2(SPHKAP):c.2453A>G (p.His818Arg)	SPHKAP (H818R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598082	NM_001142644.2(SPHKAP):c.2447G>A (p.Arg816His)	SPHKAP (R816H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2290457	NM_001142644.2(SPHKAP):c.2443T>A (p.Ser815Thr)	SPHKAP (S815T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321014	NM_001142644.2(SPHKAP):c.2438A>T (p.Gln813Leu)	SPHKAP (Q813L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169051	NM_001142644.2(SPHKAP):c.2422C>G (p.Pro808Ala)	SPHKAP (P808A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592886	NM_001142644.2(SPHKAP):c.2408G>A (p.Gly803Asp)	SPHKAP (G803D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479336	NM_001142644.2(SPHKAP):c.2408G>T (p.Gly803Val)	SPHKAP (G803V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322205	NM_001142644.2(SPHKAP):c.2393G>T (p.Gly798Val)	SPHKAP (G798V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322200	NM_001142644.2(SPHKAP):c.2339C>T (p.Thr780Met)	SPHKAP (T780M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169050	NM_001142644.2(SPHKAP):c.2339C>A (p.Thr780Lys)	SPHKAP (T780K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206331	NM_001142644.2(SPHKAP):c.2306C>T (p.Ser769Phe)	SPHKAP (S769F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322209	NM_001142644.2(SPHKAP):c.2303C>T (p.Ser768Phe)	SPHKAP (S768F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169049	NM_001142644.2(SPHKAP):c.2273C>T (p.Ala758Val)	SPHKAP (A758V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278890	NM_001142644.2(SPHKAP):c.2182G>A (p.Val728Ile)	SPHKAP (V728I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524354	NM_001142644.2(SPHKAP):c.2159C>T (p.Thr720Met)	SPHKAP (T720M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214667	NM_001142644.2(SPHKAP):c.2073C>A (p.Asp691Glu)	SPHKAP (D691E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 2